#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
ESPN	83715	broad.mit.edu	37	1	6512048	6512048	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:6512048C>T	ENST00000377828.1	+	10	2385	c.2217C>T	c.(2215-2217)ctC>ctT	p.L739L	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Silent_p.L173L|ESPN_ENST00000416731.1_Silent_p.L173L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	739					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)	p.L739L(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAGGCTCTCATCCCCACGC	0.657																																						uc001amy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2215-2217)CTC>CTT		espin							23.0	24.0	24.0					1																	6512048		2202	4299	6501	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512048C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2217C>T	1.37:g.6512048C>T						ESPN_uc001amz.2_Silent_p.L173L	p.L739L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2385	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	739					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.2217C>T	CCDS70.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186831	0.21870	.	.	ENSG00000187017	ENST00000434576	.	.	.	5.14	4.2	0.49525	.	.	.	.	.	T	0.61825	0.2378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59408	-0.7460	4	.	.	.	-19.9716	11.4566	0.50185	0.0:0.6159:0.3841:0.0	.	.	.	.	Y	83	.	.	H	+	1	0	ESPN	6434635	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.291000	0.51764	2.399000	0.81585	0.491000	0.48974	CAT		PASS	0.657	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		7	12	7	12	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9804684	9804684	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:9804684C>T	ENST00000377298.4	-	8	1795	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	CLSTN1_ENST00000361311.4_Missense_Mutation_p.A325T|CLSTN1_ENST00000377288.3_Missense_Mutation_p.A335T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	335					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.A335T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGCTCGGCAGTGCCCGCG	0.637																																						uc001aqh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1003-1005)GCC>ACC		calsyntenin 1 isoform 1							42.0	30.0	34.0					1																	9804684		2203	4299	6502	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804684C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1003G>A	1.37:g.9804684C>T	ENSP00000366513:p.Ala335Thr					CLSTN1_uc001aqi.2_Missense_Mutation_p.A325T|CLSTN1_uc010oag.1_Missense_Mutation_p.A335T	p.A335T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	8	1762	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	335			Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1003G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338682	0.41398	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.8	3.89	0.44902	Concanavalin A-like lectin/glucanase (1);	0.112267	0.64402	D	0.000009	T	0.11452	0.0279	N	0.05078	-0.115	0.37933	D	0.93207	B;B;B	0.27498	0.113;0.18;0.113	B;B;B	0.33042	0.075;0.157;0.075	T	0.21690	-1.0238	10	0.27785	T	0.31	-33.9462	10.7544	0.46228	0.1352:0.7967:0.0:0.0681	.	335;325;335	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	T	335;325;155;335;335	ENSP00000366513:A335T;ENSP00000354997:A325T;ENSP00000401934:A155T;ENSP00000366502:A335T	ENSP00000354997:A325T	A	-	1	0	CLSTN1	9727271	0.995000	0.38212	0.773000	0.31616	0.350000	0.29205	3.332000	0.52083	0.746000	0.32786	0.650000	0.86243	GCC		PASS	0.637	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			6	7	6	7	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12520422	12520422	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:12520422G>A	ENST00000358136.3	+	67	12763	c.12633G>A	c.(12631-12633)gtG>gtA	p.V4211V	VPS13D_ENST00000356315.4_Silent_p.V4186V|VPS13D_ENST00000543766.1_Silent_p.V209V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V4211V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCAGGCGGTGAGAGACACAG	0.547																																						uc001atv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(12631-12633)GTG>GTA		vacuolar protein sorting 13D isoform 1							51.0	49.0	50.0					1																	12520422		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12520422G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12633G>A	1.37:g.12520422G>A						VPS13D_uc001atw.2_Silent_p.V4186V|VPS13D_uc001atx.2_Silent_p.V3398V|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.V209V	p.V4211V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	67	12774	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4210						Silent	SNP	ENST00000358136.3	37	c.12633G>A	CCDS30588.1																																																																																				PASS	0.547	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		22	40	22	40	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12520424	12520424	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:12520424G>A	ENST00000358136.3	+	67	12765	c.12635G>A	c.(12634-12636)aGa>aAa	p.R4212K	VPS13D_ENST00000356315.4_Missense_Mutation_p.R4187K|VPS13D_ENST00000543766.1_Missense_Mutation_p.R210K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R4212K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGGCGGTGAGAGACACAGCC	0.547																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(12634-12636)AGA>AAA		vacuolar protein sorting 13D isoform 1							50.0	49.0	49.0					1																	12520424		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12520424G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12635G>A	1.37:g.12520424G>A	ENSP00000350854:p.Arg4212Lys					VPS13D_uc001atw.2_Missense_Mutation_p.R4187K|VPS13D_uc001atx.2_Missense_Mutation_p.R3399K|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.R210K	p.R4212K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	67	12776	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4211						Missense_Mutation	SNP	ENST00000358136.3	37	c.12635G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.871001|5.871001	0.97049|0.97049	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136;ENST00000543766	.|T;T;T	.|0.00745	.|5.75;5.75;5.75	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.89917	.|0.923;0.929;1.0	.|P;D;D	.|0.83275	.|0.69;0.935;0.996	T|T	0.75764|0.75764	-0.3203|-0.3203	5|9	.|.	.|.	.|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;4187;4211	.|F5GX56;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	K|K	3034|4187;4212;210	.|ENSP00000348666:R4187K;ENSP00000350854:R4212K;ENSP00000441122:R210K	.|.	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12443011|12443011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.188000|9.188000	0.94921|0.94921	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.547	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		25	40	25	40	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577801	16577801	+	Silent	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:16577801C>G	ENST00000375592.3	-	10	1734	c.1518G>C	c.(1516-1518)ctG>ctC	p.L506L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	506								p.L506L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGCGGGTTTCAGATCCCAAT	0.478																																						uc001ayg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1516-1518)CTG>CTC		F-box protein 42							98.0	84.0	89.0					1																	16577801		2203	4300	6503	SO:0001819	synonymous_variant	54455							g.chr1:16577801C>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1518G>C	1.37:g.16577801C>G						FBXO42_uc001aye.3_Silent_p.L224L|FBXO42_uc001ayf.2_Silent_p.L413L	p.L506L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1734	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	506					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	c.1518G>C	CCDS30613.1																																																																																				PASS	0.478	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			82	97	82	97	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43213039	43213039	+	Silent	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:43213039T>A	ENST00000296388.5	-	14	2010	c.1959A>T	c.(1957-1959)tcA>tcT	p.S653S	LEPRE1_ENST00000236040.4_Silent_p.S653S|LEPRE1_ENST00000397054.3_Silent_p.S653S|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	653	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.S653S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTCAGTGCCTGAAGAGAATC	0.597											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001chv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)	4						c.(1957-1959)TCA>TCT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						54.0	56.0	55.0					1																	43213039		2202	4295	6497	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213039T>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1959A>T	1.37:g.43213039T>A			OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_uc001chw.2_Silent_p.S653S|LEPRE1_uc001chx.3_Silent_p.S653S	p.S653S	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			14	2072	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	653			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1959A>T	CCDS472.2																																																																																				PASS	0.597	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		49	59	49	59	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62739201	62739201	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:62739201G>T	ENST00000371153.4	-	3	1953	c.1575C>A	c.(1573-1575)ggC>ggA	p.G525G	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	525						cytoplasm (GO:0005737)		p.G525G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCTGTCGCTGCCCCACAGAA	0.602																																						uc001dah.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1573-1575)GGC>GGA		ankyrin repeat domain 38							54.0	55.0	55.0					1																	62739201		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739201G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1575C>A	1.37:g.62739201G>T						KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.G525G	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1952	-			525					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1575C>A	CCDS620.1																																																																																				PASS	0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		52	46	52	46	---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70639152	70639152	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:70639152G>T	ENST00000370952.3	-	9	1186	c.1107C>A	c.(1105-1107)atC>atA	p.I369I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	369						membrane (GO:0016020)		p.I369I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AAGTACCTTTGATCTTGCTTC	0.313																																						uc001der.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1105-1107)ATC>ATA		leucine rich repeat containing 40							60.0	61.0	61.0					1																	70639152		2203	4295	6498	SO:0001819	synonymous_variant	55631							g.chr1:70639152G>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1107C>A	1.37:g.70639152G>T							p.I369I	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			9	1159	-			369					Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1107C>A	CCDS646.1																																																																																				PASS	0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		20	42	20	42	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284369	152284369	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:152284369G>T	ENST00000368799.1	-	3	3028	c.2993C>A	c.(2992-2994)tCt>tAt	p.S998Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	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.S998Y(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)			GCTGTCTGCAGAGTGCCCGTG	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2992-2994)TCT>TAT		filaggrin							255.0	257.0	256.0					1																	152284369		2203	4300	6503	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.chr1:152284369G>T	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.2993C>A	1.37:g.152284369G>T	ENSP00000357789:p.Ser998Tyr					uc001ezv.2_5'Flank	p.S998Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3029	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		998			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2993C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	5.247	0.230996	0.09969	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00816	5.66	2.29	2.29	0.28610	.	.	.	.	.	T	0.00666	0.0022	M	0.72118	2.19	0.09310	N	1	P	0.52463	0.953	B	0.41917	0.37	T	0.50742	-0.8792	9	0.66056	D	0.02	.	7.8265	0.29318	0.0:0.0:1.0:0.0	.	998	P20930	FILA_HUMAN	Y	998;205	ENSP00000357789:S998Y	ENSP00000357789:S998Y	S	-	2	0	FLG	150550993	0.008000	0.16893	0.001000	0.08648	0.062000	0.15995	2.614000	0.46359	1.117000	0.41842	0.291000	0.19559	TCT		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		234	470	234	470	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154919185	154919185	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:154919185G>A	ENST00000368463.3	-	10	1036	c.965C>T	c.(964-966)gCc>gTc	p.A322V	PBXIP1_ENST00000539880.1_Missense_Mutation_p.A149V|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_Missense_Mutation_p.A167V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.A293V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	322					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.A322V(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCTGGAAGGCTTCGCCCTG	0.662																																						uc001ffr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(964-966)GCC>GTC		pre-B-cell leukemia homeobox interacting protein							19.0	21.0	20.0					1																	154919185		2198	4288	6486	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154919185G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.965C>T	1.37:g.154919185G>A	ENSP00000357448:p.Ala322Val					PBXIP1_uc001ffs.2_Missense_Mutation_p.A293V|PBXIP1_uc010pep.1_Missense_Mutation_p.A167V	p.A322V	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1024	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		322			Potential.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.965C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711061	0.48517	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.12984	2.63;2.63;2.65;2.64	4.49	4.49	0.54785	.	0.557526	0.18618	N	0.135966	T	0.07143	0.0181	L	0.47716	1.5	0.24507	N	0.994221	B	0.30686	0.29	B	0.34536	0.185	T	0.14227	-1.0480	10	0.33940	T	0.23	-6.9389	14.7097	0.69222	0.0:0.0:1.0:0.0	.	322	Q96AQ6	PBIP1_HUMAN	V	293;322;322;149;98;167	ENSP00000357450:A293V;ENSP00000357448:A322V;ENSP00000440142:A149V;ENSP00000438584:A167V	ENSP00000295523:A322V	A	-	2	0	PBXIP1	153185809	0.836000	0.29430	0.994000	0.49952	0.725000	0.41563	1.723000	0.38053	2.329000	0.79093	0.563000	0.77884	GCC		PASS	0.662	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		20	77	20	77	---	---	---	---
RXFP4	339403	broad.mit.edu	37	1	155911970	155911970	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:155911970G>C	ENST00000368318.3	+	1	491	c.470G>C	c.(469-471)tGg>tCg	p.W157S		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.W157S(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCTTCTGGGCCCGAATA	0.652																																						uc010pgs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)TGG>TCG		relaxin 3 receptor 2							39.0	40.0	40.0					1																	155911970		2203	4299	6502	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155911970G>C	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.470G>C	1.37:g.155911970G>C	ENSP00000357301:p.Trp157Ser						p.W157S	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			1	491	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		157			Helical; Name=4; (Potential).		B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.470G>C	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	G	6.751	0.507423	0.12883	.	.	ENSG00000173080	ENST00000368318	T	0.36340	1.26	4.54	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.514439	0.18233	N	0.147498	T	0.03095	0.0091	N	0.00621	-1.32	0.48185	D	0.999608	B	0.15141	0.012	B	0.24006	0.05	T	0.41627	-0.9498	10	0.06236	T	0.91	-11.0955	8.3125	0.32080	0.1072:0.0:0.8928:0.0	.	157	Q8TDU9	RL3R2_HUMAN	S	157	ENSP00000357301:W157S	ENSP00000357301:W157S	W	+	2	0	RXFP4	154178594	0.956000	0.32656	1.000000	0.80357	0.927000	0.56198	1.661000	0.37408	1.135000	0.42183	0.462000	0.41574	TGG		PASS	0.652	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		17	51	17	51	---	---	---	---
NES	10763	broad.mit.edu	37	1	156646867	156646867	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:156646867G>C	ENST00000368223.3	-	1	322	c.190C>G	c.(190-192)Cgg>Ggg	p.R64G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	64	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.R64G(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGAGGGCCCGCAGGGCCGCC	0.721																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(190-192)CGG>GGG		nestin							4.0	6.0	5.0					1																	156646867		1885	3872	5757	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156646867G>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.190C>G	1.37:g.156646867G>C	ENSP00000357206:p.Arg64Gly						p.R64G	NM_006617	NP_006608	P48681	NEST_HUMAN			1	323	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		64			Coil 1B.|Rod.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.190C>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538105	0.45176	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.92911	-3.13	4.2	-5.82	0.02333	Filament (1);	.	.	.	.	D	0.87712	0.6246	M	0.87269	2.87	0.51012	D	0.999906	B	0.29253	0.239	B	0.34824	0.19	T	0.76041	-0.3104	9	0.87932	D	0	.	10.7368	0.46130	0.0:0.1992:0.2111:0.5897	.	64	P48681	NEST_HUMAN	G	64	ENSP00000357206:R64G	ENSP00000255024:R64G	R	-	1	2	NES	154913491	1.000000	0.71417	0.117000	0.21633	0.216000	0.24613	0.623000	0.24447	-1.625000	0.01554	-1.536000	0.00914	CGG		PASS	0.721	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	10	6	10	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:158152847C>T	ENST00000368171.3	+	5	1286	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617																																						uc001frr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(787-789)CTC>TTC		CD1D antigen precursor							126.0	111.0	116.0					1																	158152847		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152847C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.787C>T	1.37:g.158152847C>T	ENSP00000357153:p.Leu263Phe					CD1D_uc009wss.2_Intron	p.L263F	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1286	+	all_hematologic(112;0.0378)		263			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.787C>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649356	0.67358	.	.	ENSG00000158473	ENST00000368171	T	0.03524	3.9	5.18	4.24	0.50183	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.161682	0.29676	N	0.011488	T	0.11665	0.0284	M	0.85859	2.78	0.39383	D	0.966287	D	0.89917	1.0	D	0.97110	1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	-21.8534	11.657	0.51324	0.0:0.8202:0.1798:0.0	.	263	P15813	CD1D_HUMAN	F	263	ENSP00000357153:L263F	ENSP00000357153:L263F	L	+	1	0	CD1D	156419471	0.994000	0.37717	0.975000	0.42487	0.678000	0.39670	0.770000	0.26618	1.234000	0.43709	0.655000	0.94253	CTC		PASS	0.617	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		47	114	47	114	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159898366	159898366	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:159898366C>G	ENST00000368094.1	-	19	3009	c.2812G>C	c.(2812-2814)Gat>Cat	p.D938H	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.D922H|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	938	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D922H(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTCCCCATCCACATTCATC	0.637																																						uc001fur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(2812-2814)GAT>CAT		immunoglobulin superfamily, member 9 isoform a							19.0	20.0	19.0					1																	159898366		2201	4297	6498	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159898366C>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2812G>C	1.37:g.159898366C>G	ENSP00000357073:p.Asp938His					IGSF9_uc001fuq.2_Missense_Mutation_p.D922H|IGSF9_uc001fup.2_Missense_Mutation_p.D84H	p.D938H	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	3010	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	938			Pro-rich.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.2812G>C	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793804	0.70452	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.76316	-1.01;-0.94	4.63	4.63	0.57726	.	0.000000	0.39475	N	0.001351	T	0.75162	0.3812	L	0.27053	0.805	0.39318	D	0.965199	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	T	0.75022	-0.3464	9	.	.	.	-5.0638	15.0052	0.71507	0.0:1.0:0.0:0.0	.	938;476	Q9P2J2;C9JI81	TUTLA_HUMAN;.	H	922;938;476	ENSP00000355049:D922H;ENSP00000357073:D938H	.	D	-	1	0	IGSF9	158164990	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	1.869000	0.39519	2.378000	0.81104	0.655000	0.94253	GAT		PASS	0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		3	7	3	7	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167382320	167382320	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:167382320A>G	ENST00000541643.3	+	16	2052	c.1890A>G	c.(1888-1890)ctA>ctG	p.L630L	POU2F1_ENST00000367862.5_Silent_p.L642L|POU2F1_ENST00000429375.2_Silent_p.L590L|POU2F1_ENST00000420254.3_Silent_p.L630L|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.L653L			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	630					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L653L(1)|p.L630L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCCAGCTCTAATGAGCAACA	0.493																																						uc001gec.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(1888-1890)CTA>CTG		POU class 2 homeobox 1							136.0	134.0	134.0					1																	167382320		2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167382320A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1890A>G	1.37:g.167382320A>G						POU2F1_uc001ged.2_Silent_p.L628L|POU2F1_uc001gee.2_Silent_p.L630L|POU2F1_uc010plh.1_Silent_p.L567L|POU2F1_uc001gef.2_Silent_p.L642L|POU2F1_uc001geg.2_Silent_p.L528L	p.L630L	NM_002697	NP_002688	P14859	PO2F1_HUMAN			16	2052	+			630					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.1890A>G																																																																																					PASS	0.493	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		73	157	73	157	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169993564	169993564	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:169993564C>T	ENST00000361580.2	-	9	1242	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D261N|KIFAP3_ENST00000367765.1_Missense_Mutation_p.D299N|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D295N|KIFAP3_ENST00000540905.1_Missense_Mutation_p.D41N	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	339					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.D339N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTACCATATCATTTTTATTC	0.313																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1015-1017)GAT>AAT		kinesin-associated protein 3							39.0	42.0	41.0					1																	169993564		2200	4295	6495	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169993564C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1015G>A	1.37:g.169993564C>T	ENSP00000354560:p.Asp339Asn					KIFAP3_uc010plx.1_Missense_Mutation_p.D41N	p.D339N	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			9	1286	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		339			ARM 1.		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1015G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645255	0.96704	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	L	0.47716	1.5	0.80722	D	1	D	0.58620	0.983	P	0.60415	0.874	T	0.36065	-0.9763	9	.	.	.	-26.3647	20.1323	0.98003	0.0:1.0:0.0:0.0	.	339	Q92845	KIFA3_HUMAN	N	339;299;295;41;261	ENSP00000354560:D339N;ENSP00000356739:D299N;ENSP00000356741:D295N;ENSP00000442712:D41N;ENSP00000444622:D261N	.	D	-	1	0	KIFAP3	168260188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.363000	0.79516	2.857000	0.98124	0.650000	0.86243	GAT		PASS	0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		4	98	4	98	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178834180	178834180	+	Silent	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:178834180A>T	ENST00000234816.2	-	3	1179	c.732T>A	c.(730-732)ggT>ggA	p.G244G	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G244G|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	244					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.G244G(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CTCTGGGATAACCTGGATCCC	0.488																																						uc001gma.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GGT>GGA		angiopoietin-like 1 precursor							104.0	96.0	99.0					1																	178834180		2203	4299	6502	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834180A>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.732T>A	1.37:g.178834180A>T						RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.G244G|ANGPTL1_uc010pnc.1_Silent_p.G166G	p.G244G	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	1208	-			244					Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.732T>A	CCDS1327.1																																																																																				PASS	0.488	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		63	146	63	146	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	182992985	182992985	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:182992985G>T	ENST00000258341.4	+	1	391	c.134G>T	c.(133-135)gGg>gTg	p.G45V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	45					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G45V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GACGAGGGCGGGCGGCCGCAG	0.736																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(133-135)GGG>GTG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						22.0	24.0	23.0					1																	182992985		2201	4298	6499	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:182992985G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.134G>T	1.37:g.182992985G>T	ENSP00000258341:p.Gly45Val					LAMC1_uc001gpx.2_Missense_Mutation_p.G45V	p.G45V	NM_002293	NP_002284	P11047	LAMC1_HUMAN			1	391	+			45					Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.134G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705587	0.89018	.	.	ENSG00000135862	ENST00000258341	T	0.32272	1.46	4.01	4.01	0.46588	Laminin, N-terminal (1);	0.221602	0.35555	N	0.003139	T	0.42245	0.1194	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.991	P;P	0.61940	0.896;0.891	T	0.46456	-0.9190	10	0.87932	D	0	.	16.1147	0.81301	0.0:0.0:1.0:0.0	.	45;45	P11047;Q6NVY8	LAMC1_HUMAN;.	V	45	ENSP00000258341:G45V	ENSP00000258341:G45V	G	+	2	0	LAMC1	181259608	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.348000	0.52209	1.737000	0.51674	0.591000	0.81541	GGG		PASS	0.736	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		10	26	10	26	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183861272	183861272	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:183861272A>T	ENST00000360851.3	+	9	1295	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	RGL1_ENST00000536277.1_Missense_Mutation_p.T371S|RGL1_ENST00000304685.4_Missense_Mutation_p.T408S|RGL1_ENST00000539189.1_Missense_Mutation_p.T373S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	373	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.T408S(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TAACCATTTGACCAGCCGAGA	0.413																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(1117-1119)ACC>TCC		ral guanine nucleotide dissociation							88.0	83.0	85.0					1																	183861272		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183861272A>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1117A>T	1.37:g.183861272A>T	ENSP00000354097:p.Thr373Ser					RGL1_uc010pof.1_Missense_Mutation_p.T178S|RGL1_uc001gqm.2_Missense_Mutation_p.T408S|RGL1_uc010pog.1_Missense_Mutation_p.T371S|RGL1_uc010poh.1_Missense_Mutation_p.T371S|RGL1_uc010poi.1_Missense_Mutation_p.T373S	p.T373S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			9	1274	+			373			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1117A>T		.	.	.	.	.	.	.	.	.	.	a	15.29	2.788357	0.49997	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.25	5.25	0.73442	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.27944	0.81	0.45427	D	0.998409	P;P;B;P;P	0.47841	0.718;0.901;0.001;0.761;0.901	B;P;B;P;P	0.50270	0.366;0.636;0.004;0.5;0.5	T	0.03887	-1.0995	10	0.10111	T	0.7	.	10.4015	0.44233	0.854:0.0:0.0:0.146	.	373;371;178;373;408	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	S	408;408;371;178;373;373	ENSP00000303192:T408S;ENSP00000356501:T408S;ENSP00000438662:T371S;ENSP00000354097:T373S;ENSP00000437355:T373S	ENSP00000303192:T408S	T	+	1	0	RGL1	182127895	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.756000	0.62205	1.965000	0.57142	0.456000	0.33151	ACC		PASS	0.413	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		31	63	31	63	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067631	190067631	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:190067631C>A	ENST00000367462.3	-	8	2049	c.1818G>T	c.(1816-1818)caG>caT	p.Q606H	BRINP3_ENST00000534846.1_Missense_Mutation_p.Q504H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	606					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q606H(1)									AGTTATAACACTGCAGGGGTA	0.473																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1816-1818)CAG>CAT		family with sequence similarity 5, member C							232.0	241.0	238.0					1																	190067631		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067631C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1818G>T	1.37:g.190067631C>A	ENSP00000356432:p.Gln606His					FAM5C_uc010pot.1_Missense_Mutation_p.Q504H	p.Q606H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2050	-	Prostate(682;0.198)		606					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1818G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349106	0.41599	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20200	2.35;2.09	5.61	4.7	0.59300	.	0.059930	0.64402	D	0.000002	T	0.24967	0.0606	L	0.58101	1.795	0.40357	D	0.979208	P;P	0.47677	0.899;0.838	P;B	0.44990	0.466;0.276	T	0.04664	-1.0935	10	0.87932	D	0	.	8.8971	0.35472	0.0:0.8303:0.0:0.1697	.	504;606	B7Z260;Q76B58	.;FAM5C_HUMAN	H	606;504	ENSP00000356432:Q606H;ENSP00000438022:Q504H	ENSP00000356432:Q606H	Q	-	3	2	FAM5C	188334254	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.430000	0.21428	1.373000	0.46208	0.585000	0.79938	CAG		PASS	0.473	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		167	429	167	429	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197480035	197480035	+	IGR	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:197480035T>C								CRB1 (32450 upstream) : DENND1B (41349 downstream)														p.E268G(1)|p.E192G(1)									AAGATTCCACTCTGCTTGGTC	0.448																																						uc010ppe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1822-1824)GAG>GGG		DENN/MADD domain containing 1B isoform 1							48.0	48.0	48.0					1																	197480035		2203	4299	6502	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197480035T>C																													1.37:g.197480035T>C						DENND1B_uc010ppf.1_RNA	p.E608G	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2161	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1823A>G		.	.	.	.	.	.	.	.	.	.	T	9.720	1.159542	0.21454	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.34859	1.34	5.34	2.98	0.34508	.	0.548101	0.16514	U	0.211130	T	0.23171	0.0560	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04347	-1.0958	10	0.22109	T	0.4	.	8.9611	0.35847	0.0:0.1607:0.0:0.8393	.	628	Q6P3S1-5	.	G	268;628;608	ENSP00000375839:E268G	ENSP00000375839:E268G	E	-	2	0	DENND1B	195746658	0.925000	0.31364	0.877000	0.34402	0.067000	0.16453	2.437000	0.44828	0.409000	0.25649	0.460000	0.39030	GAG	0	PASS	0.448									40	77	40	77	---	---	---	---
PRELP	5549	broad.mit.edu	37	1	203455842	203455842	+	Missense_Mutation	SNP	G	G	A	rs147252422		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:203455842G>A	ENST00000343110.2	+	3	1109	c.982G>A	c.(982-984)Gga>Aga	p.G328R		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	328					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G328R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAATCAACGGAACCCAGAT	0.562																																						uc001gzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(982-984)GGA>AGA		proline arginine-rich end leucine-rich repeat		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	90.0	87.0	88.0		982,982	5.4	1.0	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRELP	NM_002725.3,NM_201348.1	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	328/383,328/383	203455842	1,13005	2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203455842G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.982G>A	1.37:g.203455842G>A	ENSP00000343924:p.Gly328Arg					PRELP_uc001gzt.2_Missense_Mutation_p.G328R	p.G328R	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1182	+			328			LRR 11.		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.982G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842481	0.51057	0.0	1.16E-4	ENSG00000188783	ENST00000343110	T	0.04317	3.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.04770	0.0129	N	0.24115	0.695	0.80722	D	1	B	0.33299	0.407	B	0.34093	0.175	T	0.54866	-0.8229	10	0.15499	T	0.54	-23.05	17.8651	0.88793	0.0:0.0:1.0:0.0	.	328	P51888	PRELP_HUMAN	R	328	ENSP00000343924:G328R	ENSP00000343924:G328R	G	+	1	0	PRELP	201722465	1.000000	0.71417	0.992000	0.48379	0.295000	0.27426	9.148000	0.94652	2.553000	0.86117	0.555000	0.69702	GGA		PASS	0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		21	75	21	75	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216219838	216219838	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:216219838T>A	ENST00000307340.3	-	32	6646	c.6260A>T	c.(6259-6261)cAg>cTg	p.Q2087L	USH2A_ENST00000366943.2_Missense_Mutation_p.Q2087L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2087	Fibronectin type-III 7. {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.Q2087L(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)		TAAACAGTACTGAGTTATAAT	0.458										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.(6259-6261)CAG>CTG		usherin isoform B							119.0	99.0	106.0					1																	216219838		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.chr1:216219838T>A	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.6260A>T	1.37:g.216219838T>A	ENSP00000305941:p.Gln2087Leu	HNSCC(13;0.011)					p.Q2087L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6647	-			2087			Extracellular (Potential).|Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6260A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555234	0.65425	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.58	2.02	0.26589	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.165608	0.28533	N	0.015002	T	0.32793	0.0841	L	0.52126	1.63	0.38371	D	0.944872	P	0.42827	0.791	B	0.32677	0.15	T	0.14559	-1.0468	10	0.27082	T	0.32	.	8.8128	0.34978	0.0:0.2156:0.0:0.7844	.	2087	O75445	USH2A_HUMAN	L	2087	ENSP00000305941:Q2087L;ENSP00000355910:Q2087L	ENSP00000305941:Q2087L	Q	-	2	0	USH2A	214286461	1.000000	0.71417	0.216000	0.23742	0.963000	0.63663	3.295000	0.51794	0.156000	0.19299	-0.290000	0.09829	CAG		PASS	0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		47	134	47	134	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371017	240371017	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:240371017C>A	ENST00000319653.9	+	5	3135	c.2905C>A	c.(2905-2907)Cct>Act	p.P969T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	969	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1112T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTTCCTCCCCCTCTTCCCGG	0.711																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2905-2907)CCT>ACT		formin 2							21.0	23.0	22.0					1																	240371017		2201	4296	6497	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371017C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2905C>A	1.37:g.240371017C>A	ENSP00000318884:p.Pro969Thr					FMN2_uc010pye.1_Missense_Mutation_p.P973T	p.P969T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3130	+	Ovarian(103;0.127)	all_cancers(173;0.013)	969			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2905C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.791	0.711501	0.15239	.	.	ENSG00000155816	ENST00000319653	T	0.56941	0.43	3.82	2.9	0.33743	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.70064	0.3181	M	0.91612	3.225	0.43355	D	0.995422	D	0.58970	0.984	P	0.56343	0.796	T	0.74636	-0.3599	8	.	.	.	.	9.2378	0.37477	0.0:0.82:0.0:0.18	.	969	Q9NZ56	FMN2_HUMAN	T	969	ENSP00000318884:P969T	.	P	+	1	0	FMN2	238437640	0.137000	0.22531	0.004000	0.12327	0.002000	0.02628	2.640000	0.46579	0.985000	0.38656	-0.385000	0.06624	CCT		PASS	0.711	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		24	35	24	35	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655202	247655202	+	RNA	SNP	G	G	T	rs118113848	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:247655202G>T	ENST00000522351.1	+	0	833							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258L(1)|p.R258H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCATCTACGTGTACCTGAA	0.532																																						uc001icz.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|breast(1)|skin(1)	3						c.(772-774)CGT>CTT		olfactory receptor, family 2, subfamily W,							132.0	115.0	121.0					1																	247655202		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655202G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655202G>T							p.R258L	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	773	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	258					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.773G>T																																																																																					PASS	0.532	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		68	134	68	134	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487855	248487855	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:248487855G>C	ENST00000317965.2	-	1	44	c.16C>G	c.(16-18)Cag>Gag	p.Q6E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q6E(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TTGAAGGTCTGATTCTCCCAT	0.443																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(16-18)CAG>GAG		olfactory receptor, family 2, subfamily M,							170.0	172.0	172.0					1																	248487855		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487855G>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.16C>G	1.37:g.248487855G>C	ENSP00000324557:p.Gln6Glu						p.Q6E	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	16	-	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)		6			Extracellular (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.16C>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	2.477	-0.320447	0.05386	.	.	ENSG00000177186	ENST00000317965	T	0.00344	8.02	1.8	-0.319	0.12725	.	0.283422	0.18938	U	0.127032	T	0.00241	0.0007	L	0.58354	1.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38023	-0.9680	10	0.32370	T	0.25	.	5.4882	0.16761	0.3706:0.0:0.6294:0.0	.	6	Q8NG81	OR2M7_HUMAN	E	6	ENSP00000324557:Q6E	ENSP00000324557:Q6E	Q	-	1	0	OR2M7	246554478	0.000000	0.05858	0.033000	0.17914	0.521000	0.34408	-0.288000	0.08377	0.094000	0.17404	0.194000	0.17425	CAG		PASS	0.443	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		111	252	111	252	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756807	248756807	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr1:248756807T>A	ENST00000330500.2	-	1	293	c.263A>T	c.(262-264)aAa>aTa	p.K88I	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K88I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GGTCTTGTCTTTGGCCAGCTG	0.502																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(262-264)AAA>ATA		olfactory receptor, family 2, subfamily T,							64.0	75.0	71.0					1																	248756807		2039	4235	6274	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756807T>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.263A>T	1.37:g.248756807T>A	ENSP00000329210:p.Lys88Ile						p.K88I	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	263	-	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)		88			Extracellular (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.263A>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	7.480	0.648430	0.14516	.	.	ENSG00000184022	ENST00000330500	T	0.01313	5.02	2.34	-0.282	0.12878	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01661	0.0053	L	0.52011	1.625	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.44143	-0.9347	9	0.66056	D	0.02	.	3.7381	0.08518	0.0:0.2678:0.193:0.5392	.	88	Q8NGZ9	O2T10_HUMAN	I	88	ENSP00000329210:K88I	ENSP00000329210:K88I	K	-	2	0	OR2T10	246823430	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-0.179000	0.09768	0.068000	0.16574	0.362000	0.22060	AAA		PASS	0.502	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		33	85	33	85	---	---	---	---
TSSC1	7260	broad.mit.edu	37	2	3200790	3200790	+	Splice_Site	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:3200790T>A	ENST00000382125.4	-	6	709		c.e6-2		TSSC1_ENST00000478754.1_Splice_Site|TSSC1_ENST00000398659.4_Splice_Site	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1									p.?(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCTGGCCAGCTGGGAGTGTCA	0.498																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2																			1	Unknown(1)		lung(1)		0						c.e6-1		tumor suppressing subtransferable candidate 1							88.0	60.0	70.0					2																	3200790		2203	4300	6503	SO:0001630	splice_region_variant	7260						protein binding	g.chr2:3200790T>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.517-2A>T	2.37:g.3200790T>A						TSSC1_uc002qxi.2_Splice_Site	p.L173_splice	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	6	710	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)						D6W4Y1|O43179|Q53S19|Q53SG2	Splice_Site	SNP	ENST00000382125.4	37	c.517_splice	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061782	0.36373	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4006	0.67041	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSSC1	3179797	1.000000	0.71417	0.990000	0.47175	0.068000	0.16541	7.860000	0.86993	2.000000	0.58554	0.533000	0.62120	.		PASS	0.498	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	Intron	25	55	25	55	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25457255	25457255	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:25457255A>G	ENST00000264709.3	-	23	2969	c.2632T>C	c.(2632-2634)Tcc>Ccc	p.S878P	DNMT3A_ENST00000321117.5_Missense_Mutation_p.S878P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S655P|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.S689P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	878	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.S878P(1)|p.S689P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCATGTTGGAGACGTCAGTA	0.607			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2632-2634)TCC>CCC		DNA cytosine methyltransferase 3 alpha isoform							50.0	46.0	47.0					2																	25457255		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457255A>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2632T>C	2.37:g.25457255A>G	ENSP00000264709:p.Ser878Pro					DNMT3A_uc002rgd.2_Missense_Mutation_p.S878P|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.S689P	p.S878P	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			23	2889	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		878					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2632T>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201469	0.79015	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.946;0.994	D	0.97134	0.9820	10	0.72032	D	0.01	-11.0297	15.0001	0.71464	1.0:0.0:0.0:0.0	.	878;689	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	P	689;878;878;655	ENSP00000370122:S689P;ENSP00000324375:S878P;ENSP00000264709:S878P;ENSP00000384237:S655P	ENSP00000264709:S878P	S	-	1	0	DNMT3A	25310759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.215000	0.71742	0.459000	0.35465	TCC		PASS	0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		31	62	31	62	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800362	27800362	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:27800362C>G	ENST00000408964.2	+	1	974	c.923C>G	c.(922-924)tCc>tGc	p.S308C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	308						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S308C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGAGAGATCCCCAAGGCTC	0.453																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(922-924)TCC>TGC		hypothetical protein LOC84226							95.0	95.0	95.0					2																	27800362		1903	4124	6027	SO:0001583	missense	84226							g.chr2:27800362C>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.923C>G	2.37:g.27800362C>G	ENSP00000386190:p.Ser308Cys						p.S308C	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	974	+	Acute lymphoblastic leukemia(172;0.155)		308					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.923C>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095556	0.36952	.	.	ENSG00000221843	ENST00000408964	T	0.09350	2.99	4.14	-1.34	0.09143	.	.	.	.	.	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.19391	0.025	T	0.39078	-0.9631	9	0.72032	D	0.01	.	1.4887	0.02452	0.1586:0.3413:0.3098:0.1903	.	308	Q68DN1	CB016_HUMAN	C	308	ENSP00000386190:S308C	ENSP00000386190:S308C	S	+	2	0	C2orf16	27653866	0.000000	0.05858	0.000000	0.03702	0.861000	0.49209	-1.323000	0.02692	-0.411000	0.07530	0.563000	0.77884	TCC		PASS	0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		48	108	48	108	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31637530	31637530	+	Start_Codon_SNP	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:31637530C>G	ENST00000379416.3	-	1	51	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.M1I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGTCTGCTGTCATTGTCACAG	0.502																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1-3)ATG>ATC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						184.0	173.0	177.0					2																	31637530		2203	4300	6503	SO:0001582	initiator_codon_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31637530C>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3G>C	2.37:g.31637530C>G	ENSP00000368727:p.Met1Ile						p.M1I	NM_000379	NP_000370	P47989	XDH_HUMAN			1	82	-	Acute lymphoblastic leukemia(172;0.155)		1					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3G>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806458	0.50421	.	.	ENSG00000158125	ENST00000379416	T	0.22743	1.94	6.16	5.29	0.74685	.	0.274670	0.42821	D	0.000652	T	0.43010	0.1228	.	.	.	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.39761	-0.9598	9	0.66056	D	0.02	.	11.4951	0.50404	0.0:0.9184:0.0:0.0816	.	1	P47989	XDH_HUMAN	I	1	ENSP00000368727:M1I	ENSP00000368727:M1I	M	-	3	0	XDH	31491034	1.000000	0.71417	0.944000	0.38274	0.079000	0.17450	3.720000	0.54933	1.628000	0.50416	0.650000	0.86243	ATG		PASS	0.502	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	Missense_Mutation	60	169	60	169	---	---	---	---
SOCS5	9655	broad.mit.edu	37	2	46985978	46985978	+	Silent	SNP	C	C	A	rs17853110		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:46985978C>A	ENST00000306503.5	+	2	481	c.309C>A	c.(307-309)acC>acA	p.T103T	SOCS5_ENST00000394861.2_Silent_p.T103T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	103					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.T103T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTTGTGTTACCCCAGGAACAA	0.418																																						uc002rvf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(307-309)ACC>ACA		suppressor of cytokine signaling 5							67.0	64.0	65.0					2																	46985978		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46985978C>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.309C>A	2.37:g.46985978C>A						SOCS5_uc010yoe.1_Silent_p.T72T|SOCS5_uc002rvg.2_Silent_p.T103T	p.T103T	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	473	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	103					Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.309C>A	CCDS1830.1																																																																																				PASS	0.418	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			68	96	68	96	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48573599	48573599	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:48573599T>C	ENST00000340553.3	+	3	507	c.246T>C	c.(244-246)gtT>gtC	p.V82V		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	82					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V82V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTCCAATTGTTAGTCCATTGT	0.443																																						uc002rwh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GTT>GTC		T-cell leukemia virus enhancer factor							119.0	115.0	117.0					2																	48573599		2203	4300	6503	SO:0001819	synonymous_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573599T>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.246T>C	2.37:g.48573599T>C							p.V82V	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	561	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	82					Q15769|Q6P4Q2	Silent	SNP	ENST00000340553.3	37	c.246T>C	CCDS1838.1																																																																																				PASS	0.443	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		111	139	111	139	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63176065	63176065	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:63176065G>T	ENST00000263991.5	+	14	2671	c.2189G>T	c.(2188-2190)aGt>aTt	p.S730I	EHBP1_ENST00000354487.3_Missense_Mutation_p.S695I|EHBP1_ENST00000405289.1_Missense_Mutation_p.S695I|EHBP1_ENST00000431489.1_Missense_Mutation_p.S695I|EHBP1_ENST00000405015.3_Missense_Mutation_p.S695I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	730						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S730I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GACATCGGTAGTAACTTGGAG	0.348																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2188-2190)AGT>ATT		EH domain binding protein 1 isoform 1							58.0	63.0	61.0					2																	63176065		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63176065G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2189G>T	2.37:g.63176065G>T	ENSP00000263991:p.Ser730Ile					EHBP1_uc010fcp.2_Missense_Mutation_p.S695I|EHBP1_uc002sbz.2_Missense_Mutation_p.S695I|EHBP1_uc002scb.2_Missense_Mutation_p.S695I	p.S730I	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2671	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		730					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2189G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490824	0.26774	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.84;-0.84	6.03	3.18	0.36537	.	0.417878	0.27922	N	0.017306	T	0.65133	0.2662	L	0.50333	1.59	0.09310	N	1	B;B;B	0.31859	0.343;0.0;0.142	B;B;B	0.37304	0.246;0.001;0.125	T	0.57177	-0.7856	10	0.41790	T	0.15	.	2.1504	0.03798	0.15:0.2354:0.4234:0.1912	.	695;695;730	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	I	695;695;730;695;695	ENSP00000384143:S695I;ENSP00000403783:S695I;ENSP00000263991:S730I;ENSP00000346482:S695I;ENSP00000385524:S695I	ENSP00000263991:S730I	S	+	2	0	EHBP1	63029569	0.310000	0.24527	0.343000	0.25615	0.996000	0.88848	1.128000	0.31369	0.385000	0.24970	0.655000	0.94253	AGT		PASS	0.348	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		39	142	39	142	---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652601	74652601	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:74652601G>A	ENST00000348227.4	+	9	944	c.856G>A	c.(856-858)Gag>Aag	p.E286K	WDR54_ENST00000409791.1_Missense_Mutation_p.E234K|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	286								p.E286K(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CAGAAACCCAGAGAGTGGCTA	0.602																																						uc002slb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GAG>AAG		WD repeat domain 54							86.0	87.0	87.0					2																	74652601		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652601G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.856G>A	2.37:g.74652601G>A	ENSP00000006526:p.Glu286Lys						p.E286K	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			9	916	+			286			WD 4.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.856G>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058803	0.55325	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	T	0.50277	0.75	4.61	4.61	0.57282	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.121010	0.56097	D	0.000034	T	0.32882	0.0844	L	0.27053	0.805	0.54753	D	0.999987	B	0.13594	0.008	B	0.16722	0.016	T	0.10567	-1.0624	10	0.09084	T	0.74	-16.9856	14.4572	0.67425	0.0:0.0:1.0:0.0	.	286	Q9H977	WDR54_HUMAN	K	234;286	ENSP00000006526:E286K	ENSP00000006526:E286K	E	+	1	0	WDR54	74506109	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	3.549000	0.53681	2.413000	0.81919	0.561000	0.74099	GAG		PASS	0.602	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		107	106	107	106	---	---	---	---
IGKV6-21	28906	broad.mit.edu	37	2	89459382	89459382	+	RNA	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:89459382G>A	ENST00000390256.2	-	0	258									immunoglobulin kappa variable 6-21 (non-functional)																		ACTTGATGAGGAGCTTTGGAG	0.527																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							86.0	100.0	95.0					2																	89459382		1875	4114	5989			0							g.chr2:89459382G>A	X63399		2p11.2	2012-02-10	2008-09-10		ENSG00000211611	ENSG00000211611		"""Immunoglobulins / IGK locus"""	5836	other	immunoglobulin gene			"""immunoglobulin kappa variable 6-21"""				Standard	NG_000834		Approved	IGKV621, A26			OTTHUMG00000151654		2.37:g.89459382G>A						uc002stl.2_Intron								29		-									RNA	SNP	ENST00000390256.2	37	c.3812C>T																																																																																					PASS	0.527	IGKV6-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323403.1	NG_000834		45	120	45	120	---	---	---	---
UXS1	80146	broad.mit.edu	37	2	106710576	106710576	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:106710576T>A	ENST00000409501.3	-	15	1226	c.1169A>T	c.(1168-1170)tAc>tTc	p.Y390F	UXS1_ENST00000540130.1_Missense_Mutation_p.Y333F|UXS1_ENST00000283148.7_Missense_Mutation_p.Y395F|UXS1_ENST00000409032.1_Missense_Mutation_p.Y222F			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	390					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.Y395F(1)|p.Y390F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TTTACGGAAGTAGTGAATTGC	0.473																																						uc002tdm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1168-1170)TAC>TTC		UDP-glucuronate decarboxylase 1							231.0	219.0	223.0					2																	106710576		1960	4143	6103	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710576T>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1169A>T	2.37:g.106710576T>A	ENSP00000387019:p.Tyr390Phe					UXS1_uc002tdk.2_Missense_Mutation_p.Y188F|UXS1_uc002tdl.2_Missense_Mutation_p.Y222F|UXS1_uc002tdn.2_Missense_Mutation_p.Y395F|UXS1_uc002tdo.2_Missense_Mutation_p.Y333F	p.Y390F	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			15	1267	-			390			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1169A>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547511	0.65311	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.62016	1.91	0.80722	D	1	B;B;B	0.33299	0.407;0.284;0.284	P;B;B	0.47744	0.556;0.353;0.353	T	0.62501	-0.6841	10	0.59425	D	0.04	-7.2304	15.9091	0.79456	0.0:0.0:0.0:1.0	.	395;390;395	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	F	395;333;390;222	ENSP00000283148:Y395F;ENSP00000438265:Y333F;ENSP00000387019:Y390F;ENSP00000387096:Y222F	ENSP00000283148:Y395F	Y	-	2	0	UXS1	106077008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.710000	0.68392	2.156000	0.67533	0.460000	0.39030	TAC		PASS	0.473	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		8	99	8	99	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107450571	107450571	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:107450571A>G	ENST00000409382.3	-	3	1585	c.975T>C	c.(973-975)tcT>tcC	p.S325S	ST6GAL2_ENST00000361686.4_Silent_p.S325S|ST6GAL2_ENST00000409087.3_Silent_p.S325S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	325					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S325S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGTAGGAGCAGAGTTAAATC	0.373																																						uc002tdq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(973-975)TCT>TCC		ST6 beta-galactosamide							175.0	170.0	172.0					2																	107450571		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450571A>G	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.975T>C	2.37:g.107450571A>G						ST6GAL2_uc002tdr.2_Silent_p.S325S|ST6GAL2_uc002tds.3_Silent_p.S325S	p.S325S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			3	1094	-			325			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.975T>C	CCDS2073.1																																																																																				PASS	0.373	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		10	188	10	188	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113993073	113993073	+	Missense_Mutation	SNP	A	A	T	rs3188996	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:113993073A>T	ENST00000429538.3	-	9	1179	c.985T>A	c.(985-987)Ttt>Att	p.F329I	AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Silent_p.P302P|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Silent_p.P302P|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	329			F -> L (in dbSNP:rs3188996). {ECO:0000269|PubMed:1337742}.		anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.F329I(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGATCCAAAAAGGCGGAGCTA	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(985-987)TTT>ATT		paired box 8 isoform PAX8A							48.0	56.0	53.0					2																	113993073		1915	4128	6043	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113993073A>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.985T>A	2.37:g.113993073A>T	ENSP00000395498:p.Phe329Ile					PAX8_uc010yxu.1_Silent_p.P302P|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_5'Flank|LOC654433_uc002tjq.3_5'Flank|LOC654433_uc010fks.2_5'Flank|LOC654433_uc010fkt.2_5'Flank|LOC654433_uc002tjr.3_5'Flank	p.F329I	NM_003466	NP_003457	Q06710	PAX8_HUMAN			9	1151	-			329					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.985T>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	A	31	5.093990	0.94149	.	.	ENSG00000125618	ENST00000429538	D	0.96168	-3.93	5.58	5.58	0.84498	.	0.850655	0.10259	N	0.696184	D	0.96617	0.8896	.	.	.	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	D	0.92965	0.6392	9	0.22109	T	0.4	.	13.6863	0.62517	1.0:0.0:0.0:0.0	.	329	Q06710	PAX8_HUMAN	I	329	ENSP00000395498:F329I	ENSP00000395498:F329I	F	-	1	0	PAX8	113709544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.720000	0.68470	2.116000	0.64780	0.533000	0.62120	TTT		PASS	0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			3	25	3	25	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128384551	128384551	+	Splice_Site	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:128384551C>A	ENST00000409816.2	+	30	4171	c.4139C>A	c.(4138-4140)gCc>gAc	p.A1380D	MYO7B_ENST00000389524.4_Splice_Site_p.A1380D|MYO7B_ENST00000428314.1_Splice_Site_p.A1380D|MYO7B_ENST00000409090.1_Splice_Site_p.A233D|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1380	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1380D(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCCCCTCAGGCCCCATACACT	0.597																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(4138-4140)GCC>GAC		myosin VIIB							25.0	29.0	27.0					2																	128384551		2014	4180	6194	SO:0001630	splice_region_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384551C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4138-1C>A	2.37:g.128384551C>A						MYO7B_uc002toq.1_Missense_Mutation_p.A233D|MYO7B_uc002tor.1_Missense_Mutation_p.A233D	p.A1380D	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	31	4192	+	Colorectal(110;0.1)		1380			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4139C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.078138	0.76528	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	4.29	3.42	0.39159	Band 4.1 domain (1);FERM domain (1);	0.192346	0.45606	D	0.000354	T	0.75265	0.3826	M	0.74258	2.255	0.41865	D	0.990245	P	0.44946	0.846	P	0.45276	0.475	T	0.75271	-0.3376	10	0.36615	T	0.2	.	12.215	0.54402	0.0:0.9167:0.0:0.0833	.	1380	Q6PIF6	MYO7B_HUMAN	D	1380;1380;233;1380;233	ENSP00000374175:A1380D;ENSP00000415090:A1380D;ENSP00000386461:A1380D;ENSP00000386850:A233D	ENSP00000272666:A233D	A	+	2	0	MYO7B	128101021	0.576000	0.26700	0.724000	0.30704	0.236000	0.25371	0.946000	0.29069	1.061000	0.40601	0.556000	0.70494	GCC		PASS	0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	Missense_Mutation	10	14	10	14	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540268	133540268	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:133540268G>A	ENST00000409261.1	-	14	4489	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1372I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1372								p.I1372I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTTTGGAGGGATCCTCAAAG	0.627																																						uc002ttp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4114-4116)ATC>ATT		Nck-associated protein 5 isoform 1							49.0	51.0	50.0					2																	133540268		1963	4144	6107	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540268G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4116C>T	2.37:g.133540268G>A						NCKAP5_uc002ttq.2_Intron	p.I1372I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4490	-			1372					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4116C>T	CCDS46418.1																																																																																				PASS	0.627	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		36	57	36	57	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141625807	141625807	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:141625807C>A	ENST00000389484.3	-	26	5166	c.4195G>T	c.(4195-4197)Gca>Tca	p.A1399S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1399					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A1399S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAAAATTTGCATCCCAGTCT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4195-4197)GCA>TCA		low density lipoprotein-related protein 1B							71.0	68.0	69.0					2																	141625807		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625807C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4195G>T	2.37:g.141625807C>A	ENSP00000374135:p.Ala1399Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.A581S	p.A1399S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5167	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1399			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4195G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501140	0.64298	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95756	-3.8;-3.8	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	N	0.21545	0.675	0.58432	D	0.999999	B;D	0.52996	0.22;0.957	B;P	0.51453	0.264;0.67	D	0.90590	0.4536	10	0.09590	T	0.72	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	582;1399	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1399;1337;544	ENSP00000374135:A1399S;ENSP00000413239:A544S	ENSP00000374135:A1399S	A	-	1	0	LRP1B	141342277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.830000	0.69324	2.770000	0.95276	0.655000	0.94253	GCA		PASS	0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	108	6	108	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162719517	162719517	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:162719517T>C	ENST00000446997.1	+	6	804	c.711T>C	c.(709-711)cgT>cgC	p.R237R	SLC4A10_ENST00000272716.5_Silent_p.R237R|SLC4A10_ENST00000415876.2_Silent_p.R237R|SLC4A10_ENST00000535165.1_Silent_p.R237R|SLC4A10_ENST00000375514.5_Silent_p.R248R|SLC4A10_ENST00000421911.1_Silent_p.R237R|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	237					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.R237R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCATTGTTCGTTCCTTTGCTG	0.383																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(709-711)CGT>CGC		solute carrier family 4, sodium bicarbonate							81.0	86.0	84.0					2																	162719517		1921	4150	6071	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162719517T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.711T>C	2.37:g.162719517T>C						SLC4A10_uc010fpa.1_Silent_p.R249R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.R237R|SLC4A10_uc010zcs.1_Silent_p.R248R	p.R237R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			6	895	+			237			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.711T>C	CCDS54411.1																																																																																				PASS	0.383	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		28	42	28	42	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366566	170366566	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:170366566C>T	ENST00000284669.1	+	1	355	c.278C>T	c.(277-279)tCt>tTt	p.S93F	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.S93F(1)									TACCTGTACTCTGCCAGTATT	0.393																																						uc002ueu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)TCT>TTT		kelch repeat and BTB (POZ) domain containing 10							135.0	136.0	135.0					2																	170366566		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366566C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.278C>T	2.37:g.170366566C>T	ENSP00000284669:p.Ser93Phe					KBTBD10_uc010zdh.1_Intron	p.S93F	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	355	+			93			BTB.		Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.278C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960660	0.74016	.	.	ENSG00000239474	ENST00000284669	T	0.72282	-0.64	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.83953	2.67	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.87853	0.2659	10	0.87932	D	0	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	93	O60662	KBTBA_HUMAN	F	93	ENSP00000284669:S93F	ENSP00000284669:S93F	S	+	2	0	KBTBD10	170074812	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.453000	0.80700	2.411000	0.81874	0.585000	0.79938	TCT		PASS	0.393	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		8	258	8	258	---	---	---	---
KLHL23	151230	broad.mit.edu	37	2	170592599	170592599	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:170592599A>T	ENST00000392647.2	+	2	1319	c.1075A>T	c.(1075-1077)Agg>Tgg	p.R359W	KLHL23_ENST00000272797.4_Missense_Mutation_p.R359W|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	359								p.R359W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCTCAATGCCAGGTATTACCA	0.473																																						uc002ufh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)AGG>TGG		kelch-like 23							211.0	201.0	204.0					2																	170592599		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170592599A>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1075A>T	2.37:g.170592599A>T	ENSP00000376419:p.Arg359Trp					KLHL23_uc002ufi.1_Missense_Mutation_p.R359W	p.R359W	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			4	1413	+			359			Kelch 2.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1075A>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421737	0.62622	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.79653	-1.29;-1.29;-1.29	5.8	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	H	0.97635	4.045	0.34834	D	0.739985	D	0.89917	1.0	D	0.97110	1.0	D	0.95640	0.8697	9	0.87932	D	0	.	11.6128	0.51072	0.7272:0.2728:0.0:0.0	.	359	Q8NBE8	KLH23_HUMAN	W	359;359;180	ENSP00000272797:R359W;ENSP00000376419:R359W;ENSP00000394732:R180W	ENSP00000272797:R359W	R	+	1	2	KLHL23	170300845	0.468000	0.25839	1.000000	0.80357	0.998000	0.95712	1.264000	0.33015	2.207000	0.71202	0.528000	0.53228	AGG		PASS	0.473	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		115	173	115	173	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098959	178098959	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:178098959T>C	ENST00000397062.3	-	2	640	c.86A>G	c.(85-87)gAt>gGt	p.D29G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29G(6)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TACTCCAAGATCTATATCTTG	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		6	Substitution - Missense(6)		oesophagus(2)|liver(2)|upper_aerodigestive_tract(1)|lung(1)	central_nervous_system(1)	1						c.(85-87)GAT>GGT		nuclear factor erythroid 2-like 2 isoform 1							68.0	60.0	63.0					2																	178098959		1843	4102	5945	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098959T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.86A>G	2.37:g.178098959T>C	ENSP00000380252:p.Asp29Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13G|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13G|NFE2L2_uc002uli.3_Missense_Mutation_p.D13G|NFE2L2_uc010fra.2_Missense_Mutation_p.D13G|NFE2L2_uc010frb.2_Missense_Mutation_p.D13G	p.D29G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	641	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.86A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015560	0.75161	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	13;29;13;13;13;13;13	ENSP00000380253:D13G;ENSP00000380252:D29G;ENSP00000411575:D13G;ENSP00000391590:D13G;ENSP00000400073:D13G;ENSP00000412191:D13G;ENSP00000410015:D13G	ENSP00000380252:D29G	D	-	2	0	NFE2L2	177807205	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.698000	0.84413	2.210000	0.71456	0.460000	0.39030	GAT		PASS	0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		28	84	28	84	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179400809	179400809	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179400809G>T	ENST00000591111.1	-	307	95966	c.95742C>A	c.(95740-95742)ctC>ctA	p.L31914L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Silent_p.L24682L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L24615L|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Silent_p.L24490L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Silent_p.L30987L|TTN_ENST00000589042.1_Silent_p.L33555L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31914	Ig-like 141.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L30987L(1)|p.L30985L(1)|p.L24490L(1)|p.L24682L(1)|p.L24615L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAATGATGAGCTGGTGGT	0.443																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(92959-92961)CTC>CTA		titin isoform N2-A							132.0	124.0	127.0					2																	179400809		1923	4124	6047	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400809G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95742C>A	2.37:g.179400809G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L24682L|TTN_uc010zfi.1_Silent_p.L24615L|TTN_uc010zfj.1_Silent_p.L24490L	p.L30987L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	93185	-			31914					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92961C>A																																																																																					PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	96	57	96	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414546	179414546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179414546C>A	ENST00000591111.1	-	288	87204	c.86980G>T	c.(86980-86982)Gag>Tag	p.E28994*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E21762*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E21695*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E21570*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E28067*|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E30635*|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28994	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E28067*(1)|p.E21695*(1)|p.E28065*(1)|p.E21762*(1)|p.E21570*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATCTTCTCCCCAGTAATA	0.428																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(84199-84201)GAG>TAG		titin isoform N2-A							126.0	117.0	120.0					2																	179414546		1863	4103	5966	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414546C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86980G>T	2.37:g.179414546C>A	ENSP00000465570:p.Glu28994*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E21762*|TTN_uc010zfi.1_Nonsense_Mutation_p.E21695*|TTN_uc010zfj.1_Nonsense_Mutation_p.E21570*	p.E28067*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	84423	-			28994					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.84199G>T		.	.	.	.	.	.	.	.	.	.	C	67	99.381883	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	.	.	.	X	28067;21570;21762;21695;21567	.	ENSP00000340554:E21762X	E	-	1	0	TTN	179122792	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.776000	0.85560	2.724000	0.93272	0.563000	0.77884	GAG		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		65	168	65	168	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428441	179428441	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179428441G>C	ENST00000591111.1	-	276	77719	c.77495C>G	c.(77494-77496)cCc>cGc	p.P25832R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18600R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18533R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18408R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24905R|TTN_ENST00000589042.1_Missense_Mutation_p.P27473R|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25832	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P18600R(1)|p.P18408R(1)|p.P18533R(1)|p.P24903R(1)|p.P24905R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGTTGAGGGAGGACCTGG	0.478																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74713-74715)CCC>CGC		titin isoform N2-A							117.0	113.0	114.0					2																	179428441		1929	4148	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428441G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77495C>G	2.37:g.179428441G>C	ENSP00000465570:p.Pro25832Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18600R|TTN_uc010zfi.1_Missense_Mutation_p.P18533R|TTN_uc010zfj.1_Missense_Mutation_p.P18408R	p.P24905R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74938	-			25832					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74714C>G		.	.	.	.	.	.	.	.	.	.	G	13.72	2.321623	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95274	0.8467	H	0.99619	4.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96924	0.9676	9	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	18408;18533;18600;25832	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	24905;18408;18600;18533;18406	ENSP00000343764:P24905R;ENSP00000434586:P18408R;ENSP00000340554:P18600R;ENSP00000352154:P18533R	ENSP00000340554:P18600R	P	-	2	0	TTN	179136687	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.807000	0.99171	2.836000	0.97738	0.655000	0.94253	CCC		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	286	10	286	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179441390	179441390	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179441390A>T	ENST00000591111.1	-	275	64882	c.64658T>A	c.(64657-64659)gTt>gAt	p.V21553D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14321D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14254D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14129D|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V20626D|TTN_ENST00000589042.1_Missense_Mutation_p.V23194D|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21553	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V14129D(1)|p.V14321D(1)|p.V20624D(1)|p.V20626D(1)|p.V14254D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATCGGAAACTGGTGTTTT	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61876-61878)GTT>GAT		titin isoform N2-A							252.0	245.0	247.0					2																	179441390		1941	4131	6072	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441390A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64658T>A	2.37:g.179441390A>T	ENSP00000465570:p.Val21553Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14321D|TTN_uc010zfi.1_Missense_Mutation_p.V14254D|TTN_uc010zfj.1_Missense_Mutation_p.V14129D|uc002umv.1_5'Flank	p.V20626D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	62101	-			21553					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61877T>A		.	.	.	.	.	.	.	.	.	.	A	10.95	1.497212	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69797	0.3151	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.58620	0.983;0.983;0.983;0.983	P;P;P;P	0.55824	0.785;0.785;0.785;0.785	T	0.75091	-0.3440	9	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	14129;14254;14321;21553	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	20626;14129;14321;14254;14127	ENSP00000343764:V20626D;ENSP00000434586:V14129D;ENSP00000340554:V14321D;ENSP00000352154:V14254D	ENSP00000340554:V14321D	V	-	2	0	TTN	179149636	1.000000	0.71417	0.850000	0.33497	0.321000	0.28281	9.287000	0.95975	2.311000	0.77944	0.533000	0.62120	GTT		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		162	386	162	386	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463280	179463280	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179463280C>T	ENST00000591111.1	-	242	52365	c.52141G>A	c.(52141-52143)Gga>Aga	p.G17381R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10149R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10082R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9957R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16454R|TTN_ENST00000589042.1_Missense_Mutation_p.G19022R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17381	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G16454R(1)|p.G9957R(1)|p.G16452R(1)|p.G10149R(1)|p.G10082R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGATGTATCCAGTTACTTTG	0.403																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49360-49362)GGA>AGA		titin isoform N2-A							95.0	90.0	92.0					2																	179463280		1835	4091	5926	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463280C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52141G>A	2.37:g.179463280C>T	ENSP00000465570:p.Gly17381Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10149R|TTN_uc010zfi.1_Missense_Mutation_p.G10082R|TTN_uc010zfj.1_Missense_Mutation_p.G9957R	p.G16454R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		241	49584	-			17381					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49360G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.078317	0.55753	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78091	0.4229	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78838	-0.2046	9	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	9957;10082;10149;17381	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	16454;9957;10149;10082;9955	ENSP00000343764:G16454R;ENSP00000434586:G9957R;ENSP00000340554:G10149R;ENSP00000352154:G10082R	ENSP00000340554:G10149R	G	-	1	0	TTN	179171525	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.807000	0.86032	2.791000	0.96007	0.650000	0.86243	GGA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	70	28	70	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179468995	179468995	+	Missense_Mutation	SNP	C	C	T	rs547224785		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179468995C>T	ENST00000591111.1	-	232	49720	c.49496G>A	c.(49495-49497)cGa>cAa	p.R16499Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9267Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9200Q|TTN_ENST00000460472.2_Missense_Mutation_p.R9075Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15572Q|TTN_ENST00000589042.1_Missense_Mutation_p.R18140Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16499	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R15572Q(2)|p.R9267Q(1)|p.R9075Q(1)|p.R9200Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCTGACTCGGAACTCATA	0.368																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46714-46716)CGA>CAA		titin isoform N2-A							64.0	61.0	62.0					2																	179468995		1870	4097	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468995C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49496G>A	2.37:g.179468995C>T	ENSP00000465570:p.Arg16499Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9267Q|TTN_uc010zfi.1_Missense_Mutation_p.R9200Q|TTN_uc010zfj.1_Missense_Mutation_p.R9075Q	p.R15572Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	46939	-			16499					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46715G>A		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031552	0.54790	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65512	0.2698	M	0.73430	2.235	0.43782	D	0.996316	D;D;D;D	0.56968	0.957;0.957;0.957;0.978	B;B;B;B	0.44133	0.298;0.298;0.298;0.442	T	0.70612	-0.4824	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	9075;9200;9267;16499	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15572;9075;9267;9200;9075	ENSP00000343764:R15572Q;ENSP00000434586:R9075Q;ENSP00000340554:R9267Q;ENSP00000352154:R9200Q	ENSP00000340554:R9267Q	R	-	2	0	TTN	179177240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.628000	0.61282	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	72	33	72	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179582750	179582750	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179582750T>C	ENST00000591111.1	-	84	24256	c.24032A>G	c.(24031-24033)cAc>cGc	p.H8011R	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H7084R|TTN_ENST00000589042.1_Missense_Mutation_p.H8328R			Q8WZ42	TITIN_HUMAN	titin	12203	Ig-like 62.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H7084R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCACTGTGATCCACTTT	0.408																																						uc010zfg.1																			1	Substitution - Missense(1)	p.M7084I(1)	lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21250-21252)CAC>CGC		titin isoform N2-A							200.0	191.0	194.0					2																	179582750		1996	4167	6163	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582750T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24032A>G	2.37:g.179582750T>C	ENSP00000465570:p.His8011Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H3745R	p.H7084R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		83	21475	-			8011					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21251A>G		.	.	.	.	.	.	.	.	.	.	T	6.635	0.485587	0.12641	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	6.16	2.2	0.27929	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40247	0.1109	N	0.01410	-0.885	0.09310	N	1	B	0.18610	0.029	B	0.18263	0.021	T	0.41233	-0.9520	9	0.87932	D	0	.	13.6034	0.62033	0.0:0.0:0.3667:0.6333	.	8011	Q8WZ42	TITIN_HUMAN	R	7084	ENSP00000343764:H7084R	ENSP00000343764:H7084R	H	-	2	0	TTN	179290995	0.345000	0.24835	0.995000	0.50966	0.863000	0.49368	0.947000	0.29082	0.519000	0.28406	0.528000	0.53228	CAC		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		90	189	90	189	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610863	179610863	+	Intron	SNP	G	G	T	rs397517820		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179610863G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.P5422T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTATCTGGCTCAATACAC	0.368																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16264-16266)CCA>ACA		titin isoform novex-3							102.0	107.0	106.0					2																	179610863		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610863G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4215C>A	2.37:g.179610863G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P5422T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16488	-			8930					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16264C>A		.	.	.	.	.	.	.	.	.	.	G	15.92	2.975346	0.53720	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.66815	-0.23	5.88	5.88	0.94601	.	.	.	.	.	T	0.75961	0.3921	L	0.46614	1.455	0.80722	D	1	D	0.63880	0.993	P	0.61533	0.89	T	0.70543	-0.4843	9	0.30078	T	0.28	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	5422	Q8WZ42-6	.	T	5422;703	ENSP00000354117:P5422T	ENSP00000304714:P703T	P	-	1	0	TTN	179319108	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.291000	0.51764	2.782000	0.95742	0.655000	0.94253	CCA		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		78	216	78	216	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:179664562C>G	ENST00000591111.1	-	5	883	c.659G>C	c.(658-660)cGa>cCa	p.R220P	TTN_ENST00000360870.5_Missense_Mutation_p.R220P|TTN_ENST00000342175.6_Missense_Mutation_p.R220P|TTN_ENST00000359218.5_Missense_Mutation_p.R220P|TTN_ENST00000460472.2_Missense_Mutation_p.R220P|TTN_ENST00000342992.6_Missense_Mutation_p.R220P|TTN_ENST00000589042.1_Missense_Mutation_p.R220P			Q8WZ42	TITIN_HUMAN	titin	33894					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R220P(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCAATTCGGGTTTGTCT	0.403																																						uc002und.2																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(658-660)CGA>CCA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							98.0	97.0	98.0					2																	179664562		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664562C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.659G>C	2.37:g.179664562C>G	ENSP00000465570:p.Arg220Pro					TTN_uc010zfg.1_Missense_Mutation_p.R220P|TTN_uc010zfh.1_Missense_Mutation_p.R220P|TTN_uc010zfi.1_Missense_Mutation_p.R220P|TTN_uc010zfj.1_Missense_Mutation_p.R220P|TTN_uc002unb.2_Missense_Mutation_p.R220P	p.R220P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		5	884	-			220					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.659G>C		.	.	.	.	.	.	.	.	.	.	C	17.84	3.487414	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68331	-0.32;-0.11;-0.13;-0.14;0.07	5.92	5.05	0.67936	.	.	.	.	.	T	0.79028	0.4377	M	0.61703	1.905	0.30442	N	0.776067	D;D;D;D;D	0.69078	0.975;0.975;0.975;0.975;0.997	P;P;P;P;D	0.65987	0.809;0.809;0.809;0.809;0.94	T	0.78986	-0.1987	9	0.87932	D	0	.	15.3812	0.74658	0.0:0.9331:0.0:0.0669	.	220;220;220;220;220	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	220	ENSP00000343764:R220P;ENSP00000434586:R220P;ENSP00000340554:R220P;ENSP00000352154:R220P;ENSP00000354117:R220P	ENSP00000340554:R220P	R	-	2	0	TTN	179372807	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	4.653000	0.61462	1.517000	0.48917	0.655000	0.94253	CGA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	128	48	128	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801730	185801730	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:185801730G>A	ENST00000302277.6	+	4	2201	c.1607G>A	c.(1606-1608)tGt>tAt	p.C536Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	536							metal ion binding (GO:0046872)	p.C536Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCAGTAGTTGTGATTCTGGA	0.333																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1606-1608)TGT>TAT		zinc finger protein 804A							53.0	57.0	56.0					2																	185801730		2162	4285	6447	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801730G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1607G>A	2.37:g.185801730G>A	ENSP00000303252:p.Cys536Tyr						p.C536Y	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2201	+			536					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1607G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	0.561	-0.845094	0.02671	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.35	3.51	0.40186	.	0.298816	0.29537	N	0.011867	T	0.07593	0.0191	L	0.58101	1.795	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.27839	-1.0062	10	0.87932	D	0	-0.7757	6.184	0.20488	0.1757:0.151:0.6733:0.0	.	536	Q7Z570	Z804A_HUMAN	Y	536	ENSP00000303252:C536Y	ENSP00000303252:C536Y	C	+	2	0	ZNF804A	185509975	0.381000	0.25140	0.057000	0.19452	0.012000	0.07955	1.111000	0.31159	0.596000	0.29794	0.650000	0.86243	TGT		PASS	0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		28	101	28	101	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802102	185802102	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:185802102C>G	ENST00000302277.6	+	4	2573	c.1979C>G	c.(1978-1980)cCc>cGc	p.P660R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	660							metal ion binding (GO:0046872)	p.P660R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GATAAAAGGCCCAAATCAGAA	0.333																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1978-1980)CCC>CGC		zinc finger protein 804A							85.0	91.0	89.0					2																	185802102		2203	4296	6499	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802102C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1979C>G	2.37:g.185802102C>G	ENSP00000303252:p.Pro660Arg						p.P660R	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2573	+			660					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1979C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759830	0.49468	.	.	ENSG00000170396	ENST00000302277	T	0.06933	3.24	5.54	3.75	0.43078	.	0.578486	0.15764	N	0.245800	T	0.12646	0.0307	L	0.53249	1.67	0.09310	N	1	B	0.34103	0.437	B	0.41088	0.347	T	0.13255	-1.0516	10	0.66056	D	0.02	-12.0906	8.989	0.36012	0.0:0.7494:0.0:0.2506	.	660	Q7Z570	Z804A_HUMAN	R	660	ENSP00000303252:P660R	ENSP00000303252:P660R	P	+	2	0	ZNF804A	185510347	0.002000	0.14202	0.005000	0.12908	0.274000	0.26718	0.402000	0.20965	0.710000	0.31997	-0.137000	0.14449	CCC		PASS	0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		69	143	69	143	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196651817	196651817	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:196651817C>A	ENST00000312428.6	-	58	10895	c.10795G>T	c.(10795-10797)Ggg>Tgg	p.G3599W	DNAH7_ENST00000409063.1_Missense_Mutation_p.G82W	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3599	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G3599W(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATATTCCACCCTAGGGGTCCA	0.403																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(10795-10797)GGG>TGG		dynein, axonemal, heavy chain 7							123.0	117.0	119.0					2																	196651817		1953	4163	6116	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196651817C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10795G>T	2.37:g.196651817C>A	ENSP00000311273:p.Gly3599Trp					DNAH7_uc002uti.3_Missense_Mutation_p.G82W	p.G3599W	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			58	10896	-			3599			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10795G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948759	0.73787	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.51325	0.71;0.71	4.34	4.34	0.51931	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91756	0.5416	10	0.87932	D	0	.	16.9844	0.86336	0.0:1.0:0.0:0.0	.	3599	Q8WXX0	DYH7_HUMAN	W	3599;82	ENSP00000311273:G3599W;ENSP00000386912:G82W	ENSP00000311273:G3599W	G	-	1	0	DNAH7	196360062	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	7.510000	0.81708	2.391000	0.81399	0.555000	0.69702	GGG		PASS	0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		88	144	88	144	---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203379617	203379617	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:203379617G>A	ENST00000374580.4	+	5	1075	c.536G>A	c.(535-537)cGt>cAt	p.R179H	BMPR2_ENST00000374574.2_Missense_Mutation_p.R179H	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	179					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R179H(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATAGGAGACCGTAAACAAGGT	0.348																																						uc002uzf.3																			2	Substitution - Missense(2)	p.R179H(1)	large_intestine(1)|lung(1)	ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(535-537)CGT>CAT		bone morphogenetic protein receptor type II							131.0	119.0	123.0					2																	203379617		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203379617G>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.536G>A	2.37:g.203379617G>A	ENSP00000363708:p.Arg179His					BMPR2_uc010ftr.2_Missense_Mutation_p.R179H	p.R179H	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			5	1684	+			179			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.536G>A	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415486	0.62511	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.90261	-2.64;-2.58	5.92	4.09	0.47781	Protein kinase-like domain (1);	0.143965	0.64402	N	0.000004	D	0.84014	0.5379	N	0.24115	0.695	0.45733	D	0.998634	D;B	0.55385	0.971;0.12	P;B	0.45232	0.474;0.015	T	0.79598	-0.1737	10	0.20519	T	0.43	.	11.9632	0.53019	0.1443:0.0:0.8557:0.0	.	179;179	Q13161;Q13873	.;BMPR2_HUMAN	H	179	ENSP00000363708:R179H;ENSP00000363702:R179H	ENSP00000363702:R179H	R	+	2	0	BMPR2	203087862	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	5.181000	0.65054	0.792000	0.33850	-0.142000	0.14014	CGT		PASS	0.348	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		58	124	58	124	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228137730	228137730	+	Silent	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:228137730A>T	ENST00000396578.3	+	26	1986	c.1824A>T	c.(1822-1824)ggA>ggT	p.G608G	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	608	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G608G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCCCAGGACCTGCAGGAC	0.622																																						uc002vom.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(1822-1824)GGA>GGT		alpha 3 type IV collagen isoform 1 precursor							43.0	48.0	46.0					2																	228137730		1893	4116	6009	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228137730A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1824A>T	2.37:g.228137730A>T						COL4A3_uc002von.1_Silent_p.G608G|COL4A3_uc002voo.1_Silent_p.G608G|COL4A3_uc002vop.1_Silent_p.G608G|uc002voq.1_Intron|uc002vor.1_Intron	p.G608G	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	26	1986	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	608			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.1824A>T	CCDS42829.1																																																																																				PASS	0.622	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		33	103	33	103	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230650556	230650556	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:230650556C>G	ENST00000283943.5	-	33	4964	c.4786G>C	c.(4786-4788)Gag>Cag	p.E1596Q	TRIP12_ENST00000389045.3_Missense_Mutation_p.E1326Q|TRIP12_ENST00000389044.4_Missense_Mutation_p.E1644Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1596					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.E1596Q(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCAGCTCCTCTCGGTTCACA	0.458																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4786-4788)GAG>CAG		thyroid hormone receptor interactor 12							96.0	98.0	97.0					2																	230650556		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230650556C>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4786G>C	2.37:g.230650556C>G	ENSP00000283943:p.Glu1596Gln					TRIP12_uc002vpx.1_Missense_Mutation_p.E1644Q|TRIP12_uc002vpy.1_Missense_Mutation_p.E1326Q	p.E1596Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	33	4895	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1596					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4786G>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401389	0.62288	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.46819	0.86;0.86;0.86	5.66	5.66	0.87406	HECT (2);	0.141181	0.64402	D	0.000006	T	0.36331	0.0963	N	0.16368	0.405	0.80722	D	1	B;B;B	0.26635	0.155;0.058;0.155	B;B;B	0.28784	0.094;0.042;0.094	T	0.11372	-1.0590	10	0.21014	T	0.42	.	19.7491	0.96260	0.0:1.0:0.0:0.0	.	1326;1644;1596	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Q	1596;1326;1644	ENSP00000283943:E1596Q;ENSP00000373697:E1326Q;ENSP00000373696:E1644Q	ENSP00000283943:E1596Q	E	-	1	0	TRIP12	230358800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	GAG		PASS	0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		53	105	53	105	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2908505	2908505	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:2908505A>T	ENST00000397461.1	+	7	908	c.524A>T	c.(523-525)gAg>gTg	p.E175V	CNTN4_ENST00000427331.1_Missense_Mutation_p.E175V|CNTN4_ENST00000418658.1_Missense_Mutation_p.E175V|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	175	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E175V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTTCTCAAGAGACTGGGAAT	0.403																																						uc003bpc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(523-525)GAG>GTG		contactin 4 isoform a precursor							139.0	127.0	131.0					3																	2908505		1827	4083	5910	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908505A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.524A>T	3.37:g.2908505A>T	ENSP00000380602:p.Glu175Val					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.E175V	p.E175V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	745	+		Ovarian(110;0.156)	175			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.524A>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375158	0.42105	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.77620	-1.11;-1.11;-1.11	5.33	4.1	0.47936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062784	0.64402	D	0.000007	T	0.69033	0.3066	L	0.47716	1.5	0.80722	D	1	B;B	0.16396	0.004;0.017	B;B	0.20384	0.019;0.029	T	0.65389	-0.6180	10	0.34782	T	0.22	.	9.4356	0.38637	0.7254:0.0:0.0:0.2746	.	175;175	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	V	175	ENSP00000396010:E175V;ENSP00000380602:E175V;ENSP00000413642:E175V	ENSP00000380602:E175V	E	+	2	0	CNTN4	2883505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.282000	0.51693	2.016000	0.59253	0.533000	0.62120	GAG		PASS	0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			112	127	112	127	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36898648	36898648	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:36898648G>A	ENST00000429976.2	-	12	2680	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	TRANK1_ENST00000301807.6_Silent_p.I261I|TRANK1_ENST00000428977.2_Silent_p.I261I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	811							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.I261I(2)|p.I811I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTCTTCTTGATGACCTTGG	0.507																																						uc003cgj.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(781-783)ATC>ATT		lupus brain antigen 1							179.0	177.0	177.0					3																	36898648		2015	4168	6183	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898648G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2433C>T	3.37:g.36898648G>A							p.I261I	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1085	-			811					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.783C>T	CCDS46789.2																																																																																				PASS	0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		139	145	139	145	---	---	---	---
PLCD1	5333	broad.mit.edu	37	3	38053094	38053094	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:38053094T>C	ENST00000334661.4	-	4	721	c.499A>G	c.(499-501)Aac>Gac	p.N167D	PLCD1_ENST00000463876.1_Missense_Mutation_p.N188D|Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000479619.1_5'UTR	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	167	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)	p.N188D(1)|p.N167D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCAGGAAGTTCTGCAGCTCC	0.542																																						uc003chn.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(499-501)AAC>GAC		phospholipase C, delta 1 isoform 2							158.0	145.0	149.0					3																	38053094		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38053094T>C		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.499A>G	3.37:g.38053094T>C	ENSP00000335600:p.Asn167Asp					PLCD1_uc003chm.2_Missense_Mutation_p.N188D	p.N167D	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	4	623	-			167			EF-hand 1.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.499A>G	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	T	5.340	0.248049	0.10130	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.76968	-1.06;-1.06	5.11	2.73	0.32206	EF-hand-like domain (1);	0.316229	0.42172	N	0.000750	T	0.59238	0.2179	N	0.16743	0.435	0.25648	N	0.986125	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45659	-0.9246	10	0.31617	T	0.26	.	8.6025	0.33754	0.0:0.3907:0.0:0.6093	.	167;188	P51178;B3KR14	PLCD1_HUMAN;.	D	188;167	ENSP00000430344:N188D;ENSP00000335600:N167D	ENSP00000335600:N167D	N	-	1	0	PLCD1	38028098	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	0.056000	0.14256	0.380000	0.24823	0.533000	0.62120	AAC		PASS	0.542	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			12	45	12	45	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40285962	40285962	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:40285962A>G	ENST00000302541.6	+	13	2468	c.2126A>G	c.(2125-2127)tAt>tGt	p.Y709C	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.Y644C|MYRIP_ENST00000396217.3_Missense_Mutation_p.Y620C|MYRIP_ENST00000539167.1_Missense_Mutation_p.Y522C|MYRIP_ENST00000444716.1_Missense_Mutation_p.Y709C	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	709	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.Y709C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCACTGTGTATGGACTGGAG	0.582																																						uc003cka.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2125-2127)TAT>TGT		myosin VIIA and Rab interacting protein							73.0	68.0	70.0					3																	40285962		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40285962A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2126A>G	3.37:g.40285962A>G	ENSP00000301972:p.Tyr709Cys					MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.Y644C|MYRIP_uc010hhw.2_Missense_Mutation_p.Y620C|MYRIP_uc011ayz.1_Missense_Mutation_p.Y522C|uc003ckb.2_Intron	p.Y709C	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	13	2261	+			709			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.2126A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181422	0.78677	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.3	5.3	0.74995	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.65975	2.015	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.61758	-0.6997	9	.	.	.	.	13.4832	0.61348	1.0:0.0:0.0:0.0	.	620;644;709	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	C	709;709;644;620;522	ENSP00000398665:Y709C;ENSP00000301972:Y709C;ENSP00000389323:Y644C;ENSP00000379519:Y620C;ENSP00000438297:Y522C	.	Y	+	2	0	MYRIP	40260966	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	8.814000	0.91968	2.141000	0.66446	0.533000	0.62120	TAT		PASS	0.582	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		46	34	46	34	---	---	---	---
HYAL3	8372	broad.mit.edu	37	3	50332669	50332669	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:50332669C>A	ENST00000336307.1	-	2	637	c.365G>T	c.(364-366)gGc>gTc	p.G122V	HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.G122V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G122V|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000336089.4_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	122					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.G122V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACTGCTGGGCCAGCAAAGCC	0.647																																						uc003czd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GGC>GTC		hyaluronoglucosaminidase 3 precursor							69.0	76.0	74.0					3																	50332669		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332669C>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.365G>T	3.37:g.50332669C>A	ENSP00000337425:p.Gly122Val					HYAL3_uc003czc.1_Missense_Mutation_p.G122V|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.G122V	p.G122V	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	638	-			122					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.365G>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212817	0.58452	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982;ENST00000435141	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.7	4.7	0.59300	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	U	0.000000	D	0.86711	0.5998	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90601	0.4544	10	0.87932	D	0	-14.1002	15.2403	0.73465	0.0:1.0:0.0:0.0	.	122;122	O43820;O43820-2	HYAL3_HUMAN;.	V	122	ENSP00000351946:G122V;ENSP00000337425:G122V;ENSP00000391922:G122V;ENSP00000391663:G122V	ENSP00000337425:G122V	G	-	2	0	HYAL3	50307673	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	7.617000	0.83032	2.456000	0.83038	0.558000	0.71614	GGC		PASS	0.647	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		70	77	70	77	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109026913	109026913	+	Silent	SNP	A	A	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:109026913A>C	ENST00000478945.1	-	6	870	c.624T>G	c.(622-624)ccT>ccG	p.P208P		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	208					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.P208P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAACAGAAACAGGAATGGAAC	0.448																																						uc003dxo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(622-624)CCT>CCG		developmental pluripotency associated 2							76.0	72.0	73.0					3																	109026913		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109026913A>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.624T>G	3.37:g.109026913A>C							p.P208P	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	871	-			208					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.624T>G	CCDS2956.1																																																																																				PASS	0.448	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		66	81	66	81	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109028125	109028125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:109028125G>T	ENST00000478945.1	-	4	480	c.234C>A	c.(232-234)tgC>tgA	p.C78*		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	78					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.C78*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTATTTTGCATCTAGCTT	0.418																																						uc003dxo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(232-234)TGC>TGA		developmental pluripotency associated 2							128.0	127.0	128.0					3																	109028125		2203	4300	6503	SO:0001587	stop_gained	151871					nucleus	nucleic acid binding	g.chr3:109028125G>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.234C>A	3.37:g.109028125G>T	ENSP00000417710:p.Cys78*						p.C78*	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			4	481	-			78					Q8WVF0	Nonsense_Mutation	SNP	ENST00000478945.1	37	c.234C>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557183	0.65425	.	.	ENSG00000163530	ENST00000478945	.	.	.	3.83	-3.58	0.04597	.	2.637850	0.01131	N	0.005993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	4.0631	5.2284	0.15408	0.4356:0.1593:0.4051:0.0	.	.	.	.	X	78	.	ENSP00000417710:C78X	C	-	3	2	DPPA2	110510815	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.513000	0.06305	-0.881000	0.03992	-1.080000	0.02220	TGC		PASS	0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		81	247	81	247	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121415351	121415351	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:121415351T>A	ENST00000340645.5	-	13	4129	c.4004A>T	c.(4003-4005)aAa>aTa	p.K1335I	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K1340I	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1335					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K1335I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTTCTGATTTTTTAGTAAG	0.388																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(4003-4005)AAA>ATA		golgi autoantigen, golgin subfamily b,							82.0	88.0	86.0					3																	121415351		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415351T>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4004A>T	3.37:g.121415351T>A	ENSP00000341848:p.Lys1335Ile					GOLGB1_uc010hrc.2_Missense_Mutation_p.K1340I|GOLGB1_uc003eej.3_Missense_Mutation_p.K1301I|GOLGB1_uc011bjm.1_Missense_Mutation_p.K1221I|GOLGB1_uc010hrd.1_Missense_Mutation_p.K1299I	p.K1335I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4130	-			1335			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4004A>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193010	0.38707	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.29655	2.17;2.16;1.56	6.17	4.96	0.65561	.	0.000000	0.64402	D	0.000002	T	0.46249	0.1383	M	0.68952	2.095	0.31412	N	0.675364	D;D;D;D;D	0.67145	0.97;0.97;0.97;0.985;0.996	P;P;P;P;D	0.66847	0.781;0.781;0.781;0.781;0.947	T	0.53535	-0.8425	10	0.38643	T	0.18	.	6.7045	0.23242	0.1508:0.0:0.1576:0.6916	.	1260;1299;1340;1340;1335	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	I	1335;1340;1299	ENSP00000341848:K1335I;ENSP00000377275:K1340I;ENSP00000418231:K1299I	ENSP00000341848:K1335I	K	-	2	0	GOLGB1	122898041	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.601000	0.61090	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		223	314	223	314	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121515990	121515990	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:121515990A>G	ENST00000310864.6	-	9	1065	c.851T>C	c.(850-852)aTg>aCg	p.M284T	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	284					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.M284T(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTGATAGACCATTGGGCTTAA	0.358																																						uc010hre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)ATG>ACG		IQ motif containing B1 isoform a							100.0	101.0	101.0					3																	121515990		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121515990A>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.851T>C	3.37:g.121515990A>G	ENSP00000311505:p.Met284Thr					IQCB1_uc003eek.2_Intron|IQCB1_uc010hrf.1_RNA	p.M284T	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	9	1066	-			284					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.851T>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.307450	0.00240	.	.	ENSG00000173226	ENST00000310864;ENST00000460108	T;T	0.71103	-0.54;-0.54	4.16	0.396	0.16309	.	0.534821	0.22169	N	0.063666	T	0.41003	0.1140	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.15065	-1.0450	10	0.17832	T	0.49	0.0978	4.4774	0.11750	0.3163:0.0:0.22:0.4636	.	284	Q15051	IQCB1_HUMAN	T	284;100	ENSP00000311505:M284T;ENSP00000419168:M100T	ENSP00000311505:M284T	M	-	2	0	IQCB1	122998680	0.000000	0.05858	0.093000	0.20910	0.000000	0.00434	-0.047000	0.11963	0.059000	0.16252	-2.991000	0.00078	ATG		PASS	0.358	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		140	250	140	250	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122880801	122880801	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:122880801G>T	ENST00000316218.7	+	17	1649	c.1554G>T	c.(1552-1554)gaG>gaT	p.E518D	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	518					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.E518D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGAAGGAAGAGTTATAATTCC	0.398																																						uc003egc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1552-1554)GAG>GAT		protein disulfide isomerase A5 precursor							93.0	98.0	96.0					3																	122880801		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122880801G>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1554G>T	3.37:g.122880801G>T	ENSP00000323313:p.Glu518Asp					PDIA5_uc003egd.1_RNA	p.E518D	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	17	1610	+			518			Prevents secretion from ER (Potential).		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.1554G>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463979	0.43736	.	.	ENSG00000065485	ENST00000316218	T	0.04758	3.56	5.59	2.34	0.29019	.	0.049459	0.85682	N	0.000000	T	0.04452	0.0122	L	0.36672	1.1	0.47905	D	0.999546	B	0.14012	0.009	B	0.14578	0.011	T	0.35450	-0.9788	10	0.62326	D	0.03	.	7.2103	0.25929	0.212:0.1456:0.6424:0.0	.	518	Q14554	PDIA5_HUMAN	D	518	ENSP00000323313:E518D	ENSP00000323313:E518D	E	+	3	2	PDIA5	124363491	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	0.880000	0.28159	0.713000	0.32060	0.650000	0.86243	GAG		PASS	0.398	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		26	181	26	181	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126236546	126236546	+	Missense_Mutation	SNP	G	G	T	rs200446368		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:126236546G>T	ENST00000290868.2	-	1	70	c.17C>A	c.(16-18)gCg>gAg	p.A6E	UROC1_ENST00000383579.3_Missense_Mutation_p.A6E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	6					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.A6E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGAGCACAGCGCCTGGAGGCT	0.682																																						uc003eiz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16-18)GCG>GAG		urocanase domain containing 1 isoform 1							16.0	19.0	18.0					3																	126236546		2167	4272	6439	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126236546G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.17C>A	3.37:g.126236546G>T	ENSP00000290868:p.Ala6Glu					UROC1_uc010hsi.1_Missense_Mutation_p.A6E	p.A6E	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	1	49	-			6					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.17C>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	0.639	-0.814172	0.02798	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.56275	0.47;0.5	4.64	-9.2	0.00682	.	0.532223	0.19741	N	0.107105	T	0.08447	0.0210	N	0.00358	-1.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42396	-0.9454	10	0.02654	T	1	-1.3315	3.1015	0.06328	0.1781:0.0993:0.1414:0.5812	.	6;6	E9PE13;Q96N76	.;HUTU_HUMAN	E	6	ENSP00000290868:A6E;ENSP00000373073:A6E	ENSP00000290868:A6E	A	-	2	0	UROC1	127719236	0.004000	0.15560	0.073000	0.20177	0.542000	0.35054	-0.104000	0.10923	-1.326000	0.02266	0.491000	0.48974	GCG		PASS	0.682	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		4	18	4	18	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129547191	129547191	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:129547191C>T	ENST00000393238.3	-	3	371	c.31G>A	c.(31-33)Gag>Aag	p.E11K	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E11K(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAGGGTCCTCAAATAACTGT	0.398																																						uc003emz.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(31-33)GAG>AAG		transmembrane and coiled-coil domain family 1							71.0	74.0	73.0					3																	129547191		2200	4295	6495	SO:0001583	missense	23023					integral to membrane		g.chr3:129547191C>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.31G>A	3.37:g.129547191C>T	ENSP00000376930:p.Glu11Lys					TMCC1_uc010htg.2_Intron	p.E11K	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			4	532	-			11					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.31G>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594710	0.66219	.	.	ENSG00000172765	ENST00000393238	T	0.36340	1.26	5.16	5.16	0.70880	.	0.386104	0.24143	N	0.041146	T	0.27419	0.0673	N	0.19112	0.55	0.80722	D	1	B	0.26635	0.155	B	0.15870	0.014	T	0.04551	-1.0943	10	0.44086	T	0.13	-22.184	19.0563	0.93067	0.0:1.0:0.0:0.0	.	11	O94876	TMCC1_HUMAN	K	11	ENSP00000376930:E11K	ENSP00000376930:E11K	E	-	1	0	TMCC1	131029881	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.399000	0.79935	2.583000	0.87209	0.485000	0.47835	GAG		PASS	0.398	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		85	362	85	362	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132211375	132211375	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:132211375C>T	ENST00000260818.6	+	33	3989	c.3741C>T	c.(3739-3741)ctC>ctT	p.L1247L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1247					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.L1247L(1)|p.L630L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATCCACAACTCGAAAATGAAC	0.403																																						uc003eor.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(3739-3741)CTC>CTT		DnaJ (Hsp40) homolog, subfamily C, member 13							164.0	180.0	174.0					3																	132211375		2203	4299	6502	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132211375C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3741C>T	3.37:g.132211375C>T							p.L1247L	NM_015268	NP_056083	O75165	DJC13_HUMAN			33	3806	+			1247					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.3741C>T	CCDS33857.1																																																																																				PASS	0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		231	515	231	515	---	---	---	---
BFSP2	8419	broad.mit.edu	37	3	133119036	133119036	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:133119036G>A	ENST00000302334.2	+	1	198	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	37	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E37K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATCCTCCCTGGAGAGCCCCCC	0.652																																						uc003epn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)GAG>AAG		phakinin							50.0	58.0	55.0					3																	133119036		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119036G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.109G>A	3.37:g.133119036G>A	ENSP00000304987:p.Glu37Lys						p.E37K	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			1	247	+			37			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.109G>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502435	0.64298	.	.	ENSG00000170819	ENST00000302334	D	0.82893	-1.66	5.63	5.63	0.86233	.	0.664983	0.14529	N	0.313979	T	0.77519	0.4142	L	0.58101	1.795	0.33564	D	0.597763	P	0.40050	0.7	B	0.33568	0.166	T	0.77752	-0.2470	10	0.05833	T	0.94	-2.2324	17.4612	0.87620	0.0:0.0:1.0:0.0	.	37	Q13515	BFSP2_HUMAN	K	37	ENSP00000304987:E37K	ENSP00000304987:E37K	E	+	1	0	BFSP2	134601726	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.080000	0.89510	2.668000	0.90789	0.563000	0.77884	GAG		PASS	0.652	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			29	161	29	161	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137892435	137892435	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:137892435G>A	ENST00000260803.4	-	2	384	c.231C>T	c.(229-231)ctC>ctT	p.L77L	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	77					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.L77L(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGAAGAGCGTGAGAACTGGAG	0.408																																						uc003erv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CTC>CTT		debranching enzyme homolog 1							118.0	120.0	119.0					3																	137892435		2203	4300	6503	SO:0001819	synonymous_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137892435G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.231C>T	3.37:g.137892435G>A						DBR1_uc003eru.2_Silent_p.L26L	p.L77L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			2	367	-			77					Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	c.231C>T	CCDS33863.1																																																																																				PASS	0.408	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			122	446	122	446	---	---	---	---
NME9	347736	broad.mit.edu	37	3	138023787	138023787	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:138023787T>A	ENST00000333911.3	-	9	746	c.719A>T	c.(718-720)gAc>gTc	p.D240V	NME9_ENST00000341790.5_Missense_Mutation_p.D177V|NME9_ENST00000484930.1_Missense_Mutation_p.D177V|NME9_ENST00000317876.4_Missense_Mutation_p.D179V|NME9_ENST00000383180.2_Missense_Mutation_p.D179V|NME9_ENST00000536478.1_Missense_Mutation_p.D179V			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	240	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.D179V(1)									AGTGACCACGTCCTCGAAGCC	0.587																																						uc003esg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(718-720)GAC>GTC		thioredoxin domain containing 6							184.0	159.0	167.0					3																	138023787		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138023787T>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.719A>T	3.37:g.138023787T>A	ENSP00000335444:p.Asp240Val					TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Missense_Mutation_p.D155V|TXNDC6_uc003ese.1_Missense_Mutation_p.D179V	p.D240V	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			9	747	-			240			NDK.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.719A>T		.	.	.	.	.	.	.	.	.	.	T	15.25	2.779065	0.49891	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.44	5.44	0.79542	.	0.372251	0.29995	N	0.010664	T	0.71434	0.3339	.	.	.	0.80722	D	1	P;D;P	0.69078	0.946;0.997;0.906	P;D;B	0.68621	0.613;0.959;0.413	T	0.75462	-0.3309	9	0.72032	D	0.01	-17.1723	13.4397	0.61106	0.0:0.0:0.0:1.0	.	177;240;179	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	V	179;179;177;177;179;240	ENSP00000372667:D179V;ENSP00000321929:D179V;ENSP00000419882:D177V;ENSP00000341084:D177V;ENSP00000440143:D179V;ENSP00000335444:D240V	ENSP00000321929:D179V	D	-	2	0	TXNDC6	139506477	0.999000	0.42202	0.636000	0.29352	0.098000	0.18820	4.153000	0.58118	2.072000	0.62099	0.482000	0.46254	GAC		PASS	0.587	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		166	316	166	316	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155206555	155206555	+	Silent	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:155206555T>A	ENST00000340059.7	-	19	2396	c.2397A>T	c.(2395-2397)gtA>gtT	p.V799V	PLCH1_ENST00000414191.1_Silent_p.V781V|PLCH1_ENST00000447496.2_Silent_p.V799V|PLCH1_ENST00000334686.6_Silent_p.V781V|PLCH1_ENST00000494598.1_Silent_p.V799V|PLCH1_ENST00000460012.1_Silent_p.V781V|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	799	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.V799V(1)|p.V781V(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)			CTGGCATGTGTACTGTAAATG	0.428																																						uc011bok.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(2395-2397)GTA>GTT		phospholipase C eta 1 isoform a							129.0	115.0	120.0					3																	155206555		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.chr3:155206555T>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.2397A>T	3.37:g.155206555T>A						PLCH1_uc011boj.1_Silent_p.V799V|PLCH1_uc011bol.1_Silent_p.V781V	p.V799V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		19	2674	-			799			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2397A>T	CCDS46939.1																																																																																				PASS	0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		30	147	30	147	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081367	157081367	+	Silent	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:157081367T>A	ENST00000362010.2	-	9	1828	c.1521A>T	c.(1519-1521)tcA>tcT	p.S507S	VEPH1_ENST00000392832.2_Silent_p.S507S|VEPH1_ENST00000392833.2_Silent_p.S507S|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.S507S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	507						plasma membrane (GO:0005886)		p.S507S(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTATGAAACTGAAGACTCCC	0.428																																						uc003fbj.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1519-1521)TCA>TCT		ventricular zone expressed PH domain homolog 1							105.0	113.0	111.0					3																	157081367		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157081367T>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1521A>T	3.37:g.157081367T>A						VEPH1_uc003fbk.1_Silent_p.S507S|VEPH1_uc010hvu.1_Silent_p.S507S	p.S507S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1838	-			507					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.1521A>T	CCDS3179.1																																																																																				PASS	0.428	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		99	553	99	553	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167293742	167293742	+	Silent	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:167293742T>A	ENST00000308378.3	-	4	755	c.450A>T	c.(448-450)gcA>gcT	p.A150A	WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000453925.2_Silent_p.A203A|WDR49_ENST00000479765.1_Silent_p.A491A	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	150								p.A150A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CACAAGTGACTGCTTTCTCAT	0.403																																						uc003fev.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(448-450)GCA>GCT		WD repeat domain 49							165.0	163.0	164.0					3																	167293742		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167293742T>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.450A>T	3.37:g.167293742T>A						WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Silent_p.A203A|WDR49_uc003few.1_Silent_p.A491A	p.A150A	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			4	756	-			150			WD 3.		Q8N297	Silent	SNP	ENST00000308378.3	37	c.450A>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	0.691	-0.794303	0.02862	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	0.3	0.15776	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.49389	D	0.99978	.	.	.	.	.	.	T	0.21143	-1.0254	4	.	.	.	.	0.5107	0.00595	0.2482:0.1423:0.2569:0.3526	.	.	.	.	L	215	.	.	Q	-	2	0	WDR49	168776436	0.895000	0.30542	0.856000	0.33681	0.068000	0.16541	-0.132000	0.10467	-0.156000	0.11079	-0.262000	0.10625	CAG		PASS	0.403	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		203	346	203	346	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	170009717	170009717	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:170009717G>A	ENST00000295797.4	+	13	1584	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G418R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AATTTTAAGAGGAGAAGATTA	0.343																																						uc003fgs.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1279-1281)GGA>AGA		protein kinase C, iota							47.0	47.0	47.0					3																	170009717		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170009717G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1279G>A	3.37:g.170009717G>A	ENSP00000295797:p.Gly427Arg					PRKCI_uc003fgt.2_5'UTR	p.G427R	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		13	1517	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		427			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1279G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165425	0.78339	.	.	ENSG00000163558	ENST00000295797	T	0.29655	1.56	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	N	0.21194	0.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22800	-1.0206	9	.	.	.	.	19.0878	0.93212	0.0:0.0:1.0:0.0	.	427	P41743	KPCI_HUMAN	R	427	ENSP00000295797:G427R	.	G	+	1	0	PRKCI	171492411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.439000	0.97543	2.566000	0.86566	0.585000	0.79938	GGA		PASS	0.343	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		65	117	65	117	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075201	184075201	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:184075201T>A	ENST00000265593.4	-	8	1018	c.847A>T	c.(847-849)Acc>Tcc	p.T283S	CLCN2_ENST00000344937.7_Missense_Mutation_p.T283S|CLCN2_ENST00000457512.1_Missense_Mutation_p.T283S|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.T239S|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	283					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.T283S(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCACTGAAGGTGGCAGCGAAG	0.627																																						uc003foi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)ACC>TCC		chloride channel 2	Lubiprostone(DB01046)						72.0	80.0	77.0					3																	184075201		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075201T>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.847A>T	3.37:g.184075201T>A	ENSP00000265593:p.Thr283Ser					CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.T283S|CLCN2_uc011brl.1_Missense_Mutation_p.T283S|CLCN2_uc011brm.1_Missense_Mutation_p.T239S|CLCN2_uc011brn.1_Missense_Mutation_p.T283S	p.T283S	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	971	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		283			Helical; (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.847A>T	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	t	22.2	4.255186	0.80135	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	5.3	5.3	0.74995	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	0.988;1.0;0.999;0.997;0.999	D;D;D;D;D	0.91635	0.933;0.999;0.983;0.973;0.983	D	0.96326	0.9240	10	0.72032	D	0.01	-27.9759	14.2482	0.66001	0.0:0.0:0.0:1.0	.	283;239;283;283;283	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	S	283;283;239;283	ENSP00000265593:T283S;ENSP00000345056:T283S;ENSP00000400425:T239S;ENSP00000391928:T283S	ENSP00000265593:T283S	T	-	1	0	CLCN2	185557895	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.980000	0.88113	2.010000	0.58986	0.459000	0.35465	ACC		PASS	0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			48	201	48	201	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186459738	186459738	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:186459738G>T	ENST00000265023.4	+	10	1765	c.1553G>T	c.(1552-1554)gGt>gTt	p.G518V	RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596329.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	518					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G518V(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAGCACAATGGTTGGAAAACA	0.463																																						uc011bsa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1552-1554)GGT>GTT		kininogen 1 isoform 1	Ouabain(DB01092)						62.0	58.0	59.0					3																	186459738		1951	4145	6096	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459738G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1553G>T	3.37:g.186459738G>T	ENSP00000265023:p.Gly518Val					KNG1_uc003fqr.2_Intron	p.G518V	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	1765	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		518					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1553G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903075	0.17760	.	.	ENSG00000113889	ENST00000265023	T	0.13901	2.55	4.82	-4.96	0.03038	.	1.508850	0.04190	N	0.328065	T	0.13457	0.0326	L	0.44542	1.39	0.09310	N	0.999998	D	0.54047	0.964	P	0.48425	0.577	T	0.27191	-1.0081	9	.	.	.	0.0315	2.5024	0.04637	0.4979:0.1222:0.2566:0.1233	.	518	P01042	KNG1_HUMAN	V	518	ENSP00000265023:G518V	.	G	+	2	0	KNG1	187942432	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.296000	0.08287	-0.764000	0.04651	-0.218000	0.12543	GGT		PASS	0.463	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		29	113	29	113	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193333491	193333491	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:193333491C>T	ENST00000392438.3	+	3	614	c.380C>T	c.(379-381)cCg>cTg	p.P127L	OPA1_ENST00000361828.2_Missense_Mutation_p.P127L|OPA1_ENST00000361510.2_Missense_Mutation_p.P127L|OPA1_ENST00000361715.2_Missense_Mutation_p.P127L|OPA1_ENST00000361908.3_Missense_Mutation_p.P127L|OPA1_ENST00000487986.1_3'UTR|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361150.2_Missense_Mutation_p.P127L|OPA1-AS1_ENST00000433105.1_RNA	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	127					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.P127L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GATATGATACCGGACCTTAGT	0.308																																						uc003ftm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)CCG>CTG		optic atrophy 1 isoform 1							236.0	244.0	241.0					3																	193333491		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193333491C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.380C>T	3.37:g.193333491C>T	ENSP00000376233:p.Pro127Leu					OPA1_uc003ftg.2_Missense_Mutation_p.P127L|OPA1_uc003fth.2_Missense_Mutation_p.P127L|OPA1_uc003fti.2_Missense_Mutation_p.P127L|OPA1_uc003ftj.2_Missense_Mutation_p.P127L|OPA1_uc003ftk.2_Missense_Mutation_p.P127L|OPA1_uc003ftl.2_Missense_Mutation_p.P127L|OPA1_uc003ftn.2_Missense_Mutation_p.P127L	p.P127L	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	3	614	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		127			Mitochondrial intermembrane (By similarity).		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.380C>T	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.070052|5.070052	0.93950|0.93950	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000419435;ENST00000392436|ENST00000434811	D;D;D;D;D;D;D;T;D|.	0.98732|.	-3.73;-3.84;-3.97;-4.51;-3.7;-5.1;-4.14;0.91;-3.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.050948|.	0.85682|.	D|.	0.000000|.	T|T	0.77130|0.77130	0.4085|0.4085	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.91;0.997;0.954;0.954;0.946;0.998;0.998;0.999|.	T|T	0.75414|0.75414	-0.3326|-0.3326	10|5	0.87932|.	D|.	0|.	-15.6519|-15.6519	19.1044|19.1044	0.93287|0.93287	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	127;127;127;127;127;127;127;127|.	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5|.	.;OPA1_HUMAN;.;.;.;.;.;.|.	L|W	127;127;127;127;127;127;127;3;127|27	ENSP00000354681:P127L;ENSP00000376233:P127L;ENSP00000355324:P127L;ENSP00000355311:P127L;ENSP00000354429:P127L;ENSP00000354781:P127L;ENSP00000376232:P127L;ENSP00000399877:P3L;ENSP00000376231:P127L|.	ENSP00000354781:P127L|.	P|R	+|+	2|1	0|2	OPA1|OPA1	194816185|194816185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.437000|5.437000	0.66544|0.66544	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CCG|CGG		PASS	0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		104	591	104	591	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196387697	196387697	+	Missense_Mutation	SNP	C	C	G	rs150316796		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr3:196387697C>G	ENST00000328557.4	+	3	1386	c.1183C>G	c.(1183-1185)Ccg>Gcg	p.P395A		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	395					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P395A(1)									GCACCTGGCTCCGGGGCTGGC	0.652																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1183-1185)CCG>GCG		leucine rich repeat containing 33 precursor							42.0	49.0	46.0					3																	196387697		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196387697C>G	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1183C>G	3.37:g.196387697C>G	ENSP00000328625:p.Pro395Ala						p.P395A	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1287	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		395			Extracellular (Potential).|LRR 13.			Missense_Mutation	SNP	ENST00000328557.4	37	c.1183C>G	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.154346	0.00325	.	.	ENSG00000174004	ENST00000328557	T	0.00976	5.48	6.17	3.22	0.36961	.	0.583513	0.19051	N	0.124049	T	0.00845	0.0028	L	0.43923	1.385	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48456	-0.9034	10	0.07325	T	0.83	.	4.5028	0.11872	0.2333:0.3563:0.3395:0.0708	.	395	Q86YC3	LRC33_HUMAN	A	395	ENSP00000328625:P395A	ENSP00000328625:P395A	P	+	1	0	LRRC33	197872094	0.001000	0.12720	0.053000	0.19242	0.013000	0.08279	0.654000	0.24918	0.900000	0.36469	0.655000	0.94253	CCG		PASS	0.652	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		34	116	34	116	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8372694	8372694	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr4:8372694C>G	ENST00000356406.5	-	17	2001	c.1924G>C	c.(1924-1926)Gac>Cac	p.D642H	ACOX3_ENST00000413009.2_Missense_Mutation_p.R619T|ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.D642H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	642					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.D642H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGATCACGTCTACCAGGGCA	0.572																																						uc010idk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1924-1926)GAC>CAC		acyl-Coenzyme A oxidase 3 isoform a							118.0	102.0	108.0					4																	8372694		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8372694C>G	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1924G>C	4.37:g.8372694C>G	ENSP00000348775:p.Asp642His					ACOX3_uc003glc.3_Missense_Mutation_p.D642H|ACOX3_uc003gld.3_Missense_Mutation_p.R619T	p.D642H	NM_003501	NP_003492	O15254	ACOX3_HUMAN			17	2069	-			642					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1924G>C	CCDS3401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225802|4.225802	0.79576|0.79576	.|.	.|.	ENSG00000087008|ENSG00000087008	ENST00000356406;ENST00000503233|ENST00000413009	D;D|D	0.84944|0.92249	-1.92;-1.92|-3.0	4.88|4.88	4.88|4.88	0.63580|0.63580	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);|.	0.127953|.	0.50627|.	D|.	0.000103|.	D|D	0.86033|0.86033	0.5836|0.5836	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.37015	1.0|0.578	D|B	0.97110|0.33042	1.0|0.157	D|D	0.84375|0.84375	0.0546|0.0546	9|8	0.87932|0.16896	D|T	0|0.51	-45.6453|-45.6453	15.4924|15.4924	0.75619|0.75619	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	642|619	O15254|O15254-2	ACOX3_HUMAN|.	H|T	642|619	ENSP00000348775:D642H;ENSP00000421625:D642H|ENSP00000413994:R619T	ENSP00000348775:D642H|ENSP00000413994:R619T	D|R	-|-	1|2	0|0	ACOX3|ACOX3	8423594|8423594	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.966000|0.966000	0.64601|0.64601	5.541000|5.541000	0.67212|0.67212	2.226000|2.226000	0.72624|0.72624	0.549000|0.549000	0.68633|0.68633	GAC|AGA		PASS	0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			31	58	31	58	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62453084	62453084	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr4:62453084T>C	ENST00000514591.1	+	4	524	c.195T>C	c.(193-195)atT>atC	p.I65I	LPHN3_ENST00000506700.1_Silent_p.I65I|LPHN3_ENST00000512091.2_Silent_p.I65I|LPHN3_ENST00000514996.1_Silent_p.I65I|LPHN3_ENST00000511324.1_Silent_p.I133I|LPHN3_ENST00000504896.1_Silent_p.I65I|LPHN3_ENST00000506746.1_Silent_p.I133I|LPHN3_ENST00000506720.1_Silent_p.I133I|LPHN3_ENST00000507164.1_Silent_p.I133I|LPHN3_ENST00000509896.1_Silent_p.I133I|LPHN3_ENST00000545650.1_Silent_p.I65I|LPHN3_ENST00000507625.1_Silent_p.I133I|LPHN3_ENST00000514157.1_Silent_p.I65I|LPHN3_ENST00000508693.1_Silent_p.I133I|LPHN3_ENST00000508946.1_Silent_p.I65I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	65	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				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)	p.I65I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGACAAAATTTGTGACTCTG	0.418																																						uc010ihh.2																			3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(193-195)ATT>ATC		latrophilin 3 precursor							75.0	78.0	77.0					4																	62453084		1941	4152	6093	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62453084T>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.195T>C	4.37:g.62453084T>C						LPHN3_uc003hcq.3_Silent_p.I65I|LPHN3_uc010ihg.1_Silent_p.I133I	p.I65I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			2	368	+			65			SUEL-type lectin.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.195T>C	CCDS54768.1																																																																																				PASS	0.418	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			27	46	27	46	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110897250	110897250	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr4:110897250A>T	ENST00000265171.5	+	13	2357	c.1912A>T	c.(1912-1914)Agc>Tgc	p.S638C	EGF_ENST00000509793.1_Missense_Mutation_p.S596C|EGF_ENST00000503392.1_Missense_Mutation_p.S638C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	638			S -> R (in dbSNP:rs11568992). {ECO:0000269|Ref.2}.		activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S638C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGTTATAGCCAGCTCTGATCT	0.443																																						uc003hzy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1912-1914)AGC>TGC		epidermal growth factor precursor	Sulindac(DB00605)						172.0	175.0	174.0					4																	110897250		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897250A>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1912A>T	4.37:g.110897250A>T	ENSP00000265171:p.Ser638Cys					EGF_uc011cfu.1_Missense_Mutation_p.S596C|EGF_uc011cfv.1_Missense_Mutation_p.S638C	p.S638C	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2364	+		Hepatocellular(203;0.0893)	638			Extracellular (Potential).|LDL-receptor class B 8.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1912A>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295831	0.60086	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96651	-4.08;-4.08;-4.08	5.66	3.19	0.36642	Six-bladed beta-propeller, TolB-like (1);	0.192190	0.64402	D	0.000005	D	0.98220	0.9411	H	0.94222	3.51	0.45822	D	0.998699	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74348	0.968;0.944;0.983	D	0.97335	0.9953	10	0.87932	D	0	.	8.1994	0.31415	0.7959:0.135:0.0692:0.0	.	638;596;638	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	C	596;638;638	ENSP00000424316:S596C;ENSP00000265171:S638C;ENSP00000421384:S638C	ENSP00000265171:S638C	S	+	1	0	EGF	111116699	0.759000	0.28416	0.994000	0.49952	0.571000	0.35966	2.186000	0.42593	0.409000	0.25649	0.533000	0.62120	AGC		PASS	0.443	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			110	135	110	135	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173730674	173730674	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr4:173730674T>A	ENST00000506823.1	+	6	1373	c.716T>A	c.(715-717)gTg>gAg	p.V239E	GALNTL6_ENST00000508122.1_Missense_Mutation_p.V222E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	239	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V239E(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGGTCAATGTGAACTGGCTG	0.542																																						uc003isv.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(715-717)GTG>GAG		N-acetylgalactosaminyltransferase-like 6							70.0	63.0	65.0					4																	173730674		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173730674T>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.716T>A	4.37:g.173730674T>A	ENSP00000423313:p.Val239Glu						p.V239E	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			6	1452	+			239			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.716T>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065029	0.76187	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.57907	0.37;0.37	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.56097	D	0.000033	T	0.57169	0.2035	L	0.33189	0.99	0.52099	D	0.999942	D	0.53151	0.958	P	0.59056	0.851	T	0.51076	-0.8751	10	0.21014	T	0.42	.	15.7979	0.78424	0.0:0.0:0.0:1.0	.	239	Q49A17	GLTL6_HUMAN	E	239;222	ENSP00000423313:V239E;ENSP00000423827:V222E	ENSP00000423313:V239E	V	+	2	0	GALNTL6	173967249	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.101000	0.64566	2.196000	0.70406	0.402000	0.26972	GTG		PASS	0.542	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		28	34	28	34	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	635485	635485	+	Splice_Site	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:635485A>G	ENST00000264935.5	+	6	781		c.e6-1		CEP72_ENST00000444221.1_Splice_Site	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa						G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATATTTTAATAGAATCCAGAC	0.393																																						uc003jbf.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-2		centrosomal protein 72 kDa							15.0	16.0	16.0					5																	635485		2201	4300	6501	SO:0001630	splice_region_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:635485A>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.692-1A>G	5.37:g.635485A>G						CEP72_uc011clz.1_Splice_Site	p.E231_splice	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		6	764	+								B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Splice_Site	SNP	ENST00000264935.5	37	c.692_splice	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568350	0.28003	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4561	0.50183	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP72	688485	0.834000	0.29399	0.208000	0.23602	0.091000	0.18340	2.169000	0.42434	1.841000	0.53522	0.460000	0.39030	.		PASS	0.393	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140	Intron	13	26	13	26	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37307492	37307492	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:37307492G>A	ENST00000231498.3	-	25	3013	c.2810C>T	c.(2809-2811)gCa>gTa	p.A937V	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.A873V|NUP155_ENST00000381843.2_Missense_Mutation_p.A878V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	937					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A937V(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTTTCTCTGCAGCCGTAAG	0.398																																						uc003jku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2809-2811)GCA>GTA		nucleoporin 155kDa isoform 1							97.0	90.0	93.0					5																	37307492		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37307492G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2810C>T	5.37:g.37307492G>A	ENSP00000231498:p.Ala937Val					NUP155_uc003jkt.1_Missense_Mutation_p.A878V|NUP155_uc010iuz.1_Missense_Mutation_p.A873V	p.A937V	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		25	2928	-	all_lung(31;0.000137)		937					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2810C>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560573	0.96527	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	D;D;D	0.94537	-3.45;-3.41;-3.22	5.46	5.46	0.80206	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.994	D	0.97515	1.0069	10	0.59425	D	0.04	-2.8715	19.3156	0.94211	0.0:0.0:1.0:0.0	.	873;937	E9PF10;O75694	.;NU155_HUMAN	V	937;878;899;873	ENSP00000231498:A937V;ENSP00000371265:A878V;ENSP00000422019:A873V	ENSP00000231498:A937V	A	-	2	0	NUP155	37343249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.567000	0.86603	0.655000	0.94253	GCA		PASS	0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		47	95	47	95	---	---	---	---
C6	729	broad.mit.edu	37	5	41160404	41160404	+	Missense_Mutation	SNP	C	C	A	rs562300050		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:41160404C>A	ENST00000263413.3	-	11	1788	c.1524G>T	c.(1522-1524)agG>agT	p.R508S	C6_ENST00000337836.5_Missense_Mutation_p.R508S|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	508	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R508S(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAAAGCTTTCCTGAGGTTGT	0.522																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1522-1524)AGG>AGT		complement component 6 precursor							216.0	185.0	195.0					5																	41160404		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160404C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1524G>T	5.37:g.41160404C>A	ENSP00000263413:p.Arg508Ser					C6_uc003jml.1_Missense_Mutation_p.R508S	p.R508S	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1734	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	508			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1524G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120441	0.77323	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84730	-1.89;-1.89	6.06	5.19	0.71726	Membrane attack complex component/perforin (MACPF) domain (3);	0.197793	0.52532	D	0.000080	D	0.86272	0.5893	M	0.72894	2.215	0.45056	D	0.998075	P	0.42161	0.772	B	0.44315	0.446	D	0.86783	0.1980	10	0.54805	T	0.06	-13.7581	13.3841	0.60785	0.0:0.8694:0.0:0.1306	.	508	P13671	CO6_HUMAN	S	508	ENSP00000338861:R508S;ENSP00000263413:R508S	ENSP00000263413:R508S	R	-	3	2	C6	41196161	0.863000	0.29885	1.000000	0.80357	0.899000	0.52679	1.477000	0.35431	1.576000	0.49790	0.655000	0.94253	AGG		PASS	0.522	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			53	128	53	128	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43175067	43175067	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:43175067C>A	ENST00000399534.1	+	7	1748	c.1704C>A	c.(1702-1704)acC>acA	p.T568T	ZNF131_ENST00000505606.2_Silent_p.T534T|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Silent_p.T534T|ZNF131_ENST00000509156.1_Silent_p.T568T|ZNF131_ENST00000306938.4_Silent_p.T534T			P52739	ZN131_HUMAN	zinc finger protein 131	568					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T534T(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACCACGTGACCCCAGAAATCA	0.483																																						uc011cpw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1702-1704)ACC>ACA		zinc finger protein 131							85.0	82.0	83.0					5																	43175067		1967	4162	6129	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43175067C>A	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1704C>A	5.37:g.43175067C>A						ZNF131_uc003jnj.3_Silent_p.T289T|ZNF131_uc003jnk.2_Silent_p.T534T|ZNF131_uc003jnn.3_Silent_p.T289T|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.T568T	NM_003432	NP_003423	P52739	ZN131_HUMAN			7	1740	+			568					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1704C>A																																																																																					PASS	0.483	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		30	91	30	91	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109106207	109106207	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:109106207C>T	ENST00000261483.4	+	7	2213	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	387					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.P387P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GGGGAGTCCCCCCAGAAACAA	0.433																																						uc003kou.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1159-1161)CCC>CCT		mannosidase, alpha, class 2A, member 1							84.0	82.0	83.0					5																	109106207		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109106207C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1161C>T	5.37:g.109106207C>T							p.P387P	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2124	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	387			Lumenal (Potential).		Q16767	Silent	SNP	ENST00000261483.4	37	c.1161C>T	CCDS34209.1																																																																																				PASS	0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			58	80	58	80	---	---	---	---
CXCL14	9547	broad.mit.edu	37	5	134910301	134910301	+	Missense_Mutation	SNP	C	C	T	rs139612389		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:134910301C>T	ENST00000337225.5	-	3	745	c.281G>A	c.(280-282)cGc>cAc	p.R94H	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.R82H	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	94					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)	p.R94H(1)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGATGAAGCGCTTGGTGCT	0.607																																						uc003lay.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)CGC>CAC		small inducible cytokine B14 precursor		C	HIS/ARG	0,4406		0,0,2203	183.0	139.0	154.0		281	4.7	1.0	5	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	missense	CXCL14	NM_004887.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/112	134910301	1,13005	2203	4300	6503	SO:0001583	missense	9547				cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	g.chr5:134910301C>T	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.281G>A	5.37:g.134910301C>T	ENSP00000337065:p.Arg94His						p.R94H	NM_004887	NP_004878	O95715	CXL14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	746	-			94					B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	ENST00000337225.5	37	c.281G>A	CCDS4188.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759884	0.69763	0.0	1.16E-4	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.05649	3.41;3.41	5.59	4.72	0.59763	Chemokine interleukin-8-like domain (2);	0.166906	0.52532	D	0.000064	T	0.15739	0.0379	L	0.54323	1.7	0.38204	D	0.940264	D	0.65815	0.995	P	0.58780	0.845	T	0.00363	-1.1788	10	0.66056	D	0.02	-0.381	12.192	0.54277	0.0:0.9211:0.0:0.0789	.	94	O95715	CXL14_HUMAN	H	94;82	ENSP00000337065:R94H;ENSP00000423783:R82H	ENSP00000337065:R94H	R	-	2	0	CXCL14	134938200	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.029000	0.57253	2.635000	0.89317	0.462000	0.41574	CGC		PASS	0.607	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_004887		26	45	26	45	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774454	140774454	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:140774454T>C	ENST00000398604.2	+	1	2074	c.2074T>C	c.(2074-2076)Tat>Cat	p.Y692H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	692					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y692H(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTACACTCTATCTCGTGGT	0.612																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2074-2076)TAT>CAT		protocadherin gamma subfamily A, 8 isoform 1							36.0	42.0	40.0					5																	140774454		2191	4289	6480	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774454T>C	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2074T>C	5.37:g.140774454T>C	ENSP00000381605:p.Tyr692His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.Y692H	p.Y692H	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2972	+			692			Extracellular (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.2074T>C	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578337	0.28180	.	.	ENSG00000253767	ENST00000398604	T	0.26957	1.7	4.5	3.37	0.38596	.	0.312827	0.17180	N	0.183913	T	0.34571	0.0902	M	0.86178	2.8	0.29158	N	0.877951	B;P	0.45126	0.216;0.851	B;B	0.43508	0.12;0.422	T	0.38478	-0.9659	10	0.62326	D	0.03	.	7.3843	0.26874	0.0:0.1183:0.0:0.8817	.	692;692	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	692	ENSP00000381605:Y692H	ENSP00000381605:Y692H	Y	+	1	0	PCDHGA8	140754638	0.997000	0.39634	0.950000	0.38849	0.008000	0.06430	3.567000	0.53813	0.789000	0.33779	0.533000	0.62120	TAT		PASS	0.612	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		9	13	9	13	---	---	---	---
PRELID2	153768	broad.mit.edu	37	5	145199571	145199571	+	Silent	SNP	T	T	C	rs577387442	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:145199571T>C	ENST00000334744.4	-	3	196	c.144A>G	c.(142-144)acA>acG	p.T48T	PRELID2_ENST00000505416.1_Silent_p.T48T|PRELID2_ENST00000511435.1_Silent_p.T48T|PRELID2_ENST00000394450.2_Silent_p.T19T|PRELID2_ENST00000358004.2_Silent_p.T48T	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	48	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)	p.T48T(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGACCCCTGTTGATTCAT	0.313													T|||	2	0.000399361	0.0015	0.0	5008	,	,		16452	0.0		0.0	False		,,,				2504	0.0					uc003lnp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)ACA>ACG		PRELI domain containing 2 isoform a							72.0	77.0	75.0					5																	145199571		2203	4299	6502	SO:0001819	synonymous_variant	153768							g.chr5:145199571T>C	AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.144A>G	5.37:g.145199571T>C						PRELID2_uc003lnq.1_Silent_p.T48T|PRELID2_uc003lno.1_Silent_p.T19T|PRELID2_uc003lnr.1_Silent_p.T48T	p.T48T	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	197	-			48			PRELI/MSF1.		G5EA01|Q96EQ3	Silent	SNP	ENST00000334744.4	37	c.144A>G	CCDS34262.1																																																																																				PASS	0.313	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000372970.1	NM_182960		93	100	93	100	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145439657	145439657	+	Missense_Mutation	SNP	C	C	T	rs552475882		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:145439657C>T	ENST00000511217.1	+	8	1836	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.S595F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	595					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.S595F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCCACTCCGCGGCCAGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15811	0.001		0.0	False		,,,				2504	0.0					uc003lnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1783-1785)TCC>TTC		SH3 domain containing ring finger 2							56.0	60.0	59.0					5																	145439657		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439657C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1784C>T	5.37:g.145439657C>T	ENSP00000424497:p.Ser595Phe					SH3RF2_uc011dbl.1_Missense_Mutation_p.S595F|SH3RF2_uc011dbm.1_Missense_Mutation_p.S80F|SH3RF2_uc003lnu.2_Missense_Mutation_p.S86F|SH3RF2_uc011dbn.1_Missense_Mutation_p.S86F|SH3RF2_uc011dbo.1_Missense_Mutation_p.S52F	p.S595F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	2022	+			595					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1784C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091839	0.55968	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.19806	2.12;2.12	5.73	5.73	0.89815	.	0.084542	0.50627	D	0.000101	T	0.41143	0.1146	M	0.61703	1.905	0.41441	D	0.987925	D;P	0.65815	0.995;0.857	D;P	0.63283	0.913;0.58	T	0.03981	-1.0987	10	0.21014	T	0.42	-6.822	17.6747	0.88227	0.0:1.0:0.0:0.0	.	86;595	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	F	595	ENSP00000352028:S595F;ENSP00000424497:S595F	ENSP00000352028:S595F	S	+	2	0	SH3RF2	145419850	0.990000	0.36364	0.916000	0.36221	0.006000	0.05464	3.084000	0.50143	2.707000	0.92482	0.536000	0.68110	TCC		PASS	0.627	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		31	30	31	30	---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145895656	145895656	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:145895656T>C	ENST00000311104.2	-	1	97	c.21A>G	c.(19-21)gcA>gcG	p.A7A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A7A(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTAGAGTCTGCAAAGGCAG	0.488																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(19-21)GCA>GCG		G protein-coupled receptor 151							79.0	86.0	83.0					5																	145895656		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895656T>C	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.21A>G	5.37:g.145895656T>C							p.A7A	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	21	-			7			Extracellular (Potential).		Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.21A>G	CCDS34266.1																																																																																				PASS	0.488	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		60	70	60	70	---	---	---	---
CREBRF	153222	broad.mit.edu	37	5	172539351	172539351	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:172539351A>T	ENST00000296953.2	+	7	1969	c.1650A>T	c.(1648-1650)aaA>aaT	p.K550N	CREBRF_ENST00000540014.1_Missense_Mutation_p.K552N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	550	bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K550N(1)									AAGCTAATAAAGTGAAATTAT	0.338																																						uc003mch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1648-1650)AAA>AAT		luman-recruiting factor							75.0	79.0	78.0					5																	172539351		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172539351A>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1650A>T	5.37:g.172539351A>T	ENSP00000296953:p.Lys550Asn					C5orf41_uc011dfd.1_Missense_Mutation_p.K550N	p.K550N	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1954	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	550					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1650A>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292933	0.80914	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.23552	1.9;1.9	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.30534	-0.9975	10	0.72032	D	0.01	.	15.7105	0.77623	1.0:0.0:0.0:0.0	.	550	Q8IUR6	CE041_HUMAN	N	550;552;550;550	ENSP00000296953:K550N;ENSP00000440075:K552N	ENSP00000296953:K550N	K	+	3	2	C5orf41	172471957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.061000	0.57485	2.117000	0.64856	0.482000	0.46254	AAA		PASS	0.338	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		42	84	42	84	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178418943	178418943	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:178418943C>A	ENST00000517717.1	-	3	684	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V216L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	216					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V216L(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGTGGACACATAGTTCCAT	0.627																																						uc003mjr.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(646-648)GTG>TTG		glutamate receptor, metabotropic 6 precursor							81.0	67.0	72.0					5																	178418943		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418943C>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.646G>T	5.37:g.178418943C>A	ENSP00000430767:p.Val216Leu					GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	p.V216L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	825	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	216			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.646G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194536	0.94960	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.87650	-2.28;-2.28	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.93609	0.7959	M	0.85630	2.765	0.58432	D	0.999999	D	0.60575	0.988	D	0.63877	0.919	D	0.94222	0.7468	9	0.87932	D	0	.	17.2396	0.87009	0.0:1.0:0.0:0.0	.	216	O15303	GRM6_HUMAN	L	164;216;216	ENSP00000231188:V216L;ENSP00000430767:V216L	ENSP00000231188:V216L	V	-	1	0	GRM6	178351549	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.658000	0.83755	2.746000	0.94184	0.655000	0.94253	GTG		PASS	0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			21	25	21	25	---	---	---	---
RASGEF1C	255426	broad.mit.edu	37	5	179554659	179554659	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:179554659C>G	ENST00000393371.2	-	5	960	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.E222Q|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.E71Q|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	222	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E222Q(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAACTCCTCAGGCCCGATG	0.612																																						uc003mlq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(664-666)GAG>CAG		RasGEF domain family, member 1C							46.0	46.0	46.0					5																	179554659		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179554659C>G	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.664G>C	5.37:g.179554659C>G	ENSP00000377037:p.Glu222Gln					RASGEF1C_uc003mlr.2_Missense_Mutation_p.E222Q|RASGEF1C_uc003mlp.3_Missense_Mutation_p.E71Q	p.E222Q	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	961	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	222			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.664G>C	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506899	0.64410	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30448	1.53;1.53;1.53	4.14	4.14	0.48551	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.58669	1.825	0.80722	D	1	P	0.49185	0.92	P	0.59357	0.856	T	0.46373	-0.9196	10	0.46703	T	0.11	.	15.3582	0.74443	0.0:1.0:0.0:0.0	.	222	Q8N431	RGF1C_HUMAN	Q	222;222;71	ENSP00000354963:E222Q;ENSP00000377037:E222Q;ENSP00000429114:E71Q	ENSP00000354963:E222Q	E	-	1	0	RASGEF1C	179487265	1.000000	0.71417	0.940000	0.37924	0.085000	0.17905	7.121000	0.77160	2.020000	0.59435	0.313000	0.20887	GAG		PASS	0.612	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		13	16	13	16	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33281012	33281012	+	IGR	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:33281012G>C	ENST00000431845.2	-	0	2651				TAPBP_ENST00000456592.2_Missense_Mutation_p.L151V|TAPBP_ENST00000475304.1_Missense_Mutation_p.L151V|TAPBP_ENST00000426633.2_Missense_Mutation_p.L151V|TAPBP_ENST00000434618.2_Missense_Mutation_p.L151V|TAPBP_ENST00000489157.1_Intron	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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.L151V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATGGTGATGAGAACAGGCTCC	0.597																																						uc003odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)CTC>GTC		tapasin isoform 1 precursor							65.0	68.0	67.0					6																	33281012		2203	4300	6503	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281012G>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281012G>C						TAPBP_uc010jus.1_Missense_Mutation_p.L151V|TAPBP_uc003ody.2_Missense_Mutation_p.L151V|TAPBP_uc003odz.2_Missense_Mutation_p.L151V|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Missense_Mutation_p.L151V	p.L151V	NM_003190	NP_003181	O15533	TPSN_HUMAN			3	622	-			151			Lumenal (Potential).		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.451C>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261434	0.10239	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	T;T;T;T	0.30981	1.55;1.61;1.51;1.55	4.45	2.64	0.31445	.	0.671856	0.12280	N	0.483010	T	0.06234	0.0161	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.002;0.001	T	0.42378	-0.9455	10	0.06757	T	0.87	-14.3269	5.7873	0.18340	0.1061:0.1977:0.6963:0.0	.	151;151;151;151;151	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	V	151;151;151;151;151;151;94	ENSP00000395701:L151V;ENSP00000417949:L151V;ENSP00000404833:L151V;ENSP00000387803:L151V	ENSP00000404833:L151V	L	-	1	0	TAPBP	33388990	0.128000	0.22383	0.085000	0.20634	0.933000	0.57130	0.338000	0.19858	0.494000	0.27859	0.544000	0.68410	CTC		PASS	0.597	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			34	74	34	74	---	---	---	---
SPDEF	25803	broad.mit.edu	37	6	34508830	34508830	+	Nonsense_Mutation	SNP	C	C	A	rs138933709		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:34508830C>A	ENST00000374037.3	-	3	979	c.565G>T	c.(565-567)Gag>Tag	p.E189*	SPDEF_ENST00000544425.1_Nonsense_Mutation_p.E189*	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	189	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E189*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGGAACTGCTCCTCCGACATG	0.662																																						uc003ojq.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(565-567)GAG>TAG		SAM pointed domain containing ets transcription							32.0	32.0	32.0					6																	34508830		2203	4300	6503	SO:0001587	stop_gained	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34508830C>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.565G>T	6.37:g.34508830C>A	ENSP00000363149:p.Glu189*					SPDEF_uc011dsq.1_Nonsense_Mutation_p.E189*	p.E189*	NM_012391	NP_036523	O95238	SPDEF_HUMAN			3	980	-			189			PNT.		B4DWH8|F5H778	Nonsense_Mutation	SNP	ENST00000374037.3	37	c.565G>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	40	8.330914	0.98764	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	.	.	.	5.45	5.45	0.79879	.	0.103382	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8823	0.92360	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000363149:E189X	E	-	1	0	SPDEF	34616808	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.965000	0.70387	2.552000	0.86080	0.561000	0.74099	GAG		PASS	0.662	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		13	9	13	9	---	---	---	---
SLC22A7	10864	broad.mit.edu	37	6	43267162	43267162	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:43267162G>C	ENST00000372585.5	+	3	529	c.434G>C	c.(433-435)aGa>aCa	p.R145T	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R143T|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R143T|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	145					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R145T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGTCTGAACAGAGCTGCGTCC	0.572																																						uc003out.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)AGA>ACA		solute carrier family 22 member 7 isoform b							132.0	121.0	125.0					6																	43267162		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267162G>C	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.434G>C	6.37:g.43267162G>C	ENSP00000361666:p.Arg145Thr					SLC22A7_uc010jyl.1_Missense_Mutation_p.R143T|SLC22A7_uc003ous.2_Missense_Mutation_p.R143T	p.R145T	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		3	533	+			145					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.434G>C	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169455	0.21621	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.79845	-0.31;0.24;-1.31;-1.31;-1.31	5.08	-7.05	0.01573	Major facilitator superfamily domain (1);	0.499056	0.20150	N	0.098195	T	0.45074	0.1324	N	0.13272	0.32	0.09310	N	1	B;B;B	0.21520	0.02;0.016;0.057	B;B;B	0.28305	0.088;0.053;0.053	T	0.15578	-1.0432	10	0.39692	T	0.17	.	16.5082	0.84278	0.8402:0.0:0.1598:0.0	.	145;143;143	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	T	14;204;143;145;143	ENSP00000416052:R14T;ENSP00000411818:R204T;ENSP00000361670:R143T;ENSP00000361666:R145T;ENSP00000361655:R143T	ENSP00000361655:R143T	R	+	2	0	SLC22A7	43375140	0.000000	0.05858	0.001000	0.08648	0.197000	0.23852	-0.158000	0.10070	-1.772000	0.01292	-0.444000	0.05651	AGA		PASS	0.572	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			28	51	28	51	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990303	63990303	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:63990303C>G	ENST00000370657.4	-	4	1186	c.1153G>C	c.(1153-1155)Gga>Cga	p.G385R	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	385					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.G385R(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCATTGTATCCCCATGTTGTA	0.463																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1153-1155)GGA>CGA		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						173.0	173.0	173.0					6																	63990303		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990303C>G	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1153G>C	6.37:g.63990303C>G	ENSP00000359691:p.Gly385Arg					LGSN_uc003pei.2_3'UTR	p.G385R	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1187	-			385					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1153G>C	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083324	0.55861	.	.	ENSG00000146166	ENST00000370657	D	0.91843	-2.92	5.77	5.77	0.91146	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045093	0.85682	D	0.000000	D	0.96213	0.8765	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96239	0.9174	10	0.87932	D	0	-11.9249	18.9828	0.92761	0.0:1.0:0.0:0.0	.	385	Q5TDP6	LGSN_HUMAN	R	385	ENSP00000359691:G385R	ENSP00000359691:G385R	G	-	1	0	LGSN	64048262	1.000000	0.71417	0.938000	0.37757	0.114000	0.19823	7.487000	0.81328	2.728000	0.93425	0.591000	0.81541	GGA		PASS	0.463	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		103	178	103	178	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70852701	70852701	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:70852701C>A	ENST00000322773.4	+	23	1717	c.1615C>A	c.(1615-1617)Cca>Aca	p.P539T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P161T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	539	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P539T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGAGGACCGCCAGGAGATGT	0.358																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1615-1617)CCA>ACA		alpha 1 type XIX collagen precursor							109.0	114.0	112.0					6																	70852701		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70852701C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1615C>A	6.37:g.70852701C>A	ENSP00000316030:p.Pro539Thr					COL19A1_uc010kam.1_Missense_Mutation_p.P435T	p.P539T	NM_001858	NP_001849	Q14993	COJA1_HUMAN			23	1732	+			539			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1615C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220837	0.39201	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.90900	-2.75;-2.75	5.48	5.48	0.80851	.	0.068325	0.56097	D	0.000027	D	0.89121	0.6625	M	0.63428	1.95	0.44995	D	0.99801	P	0.48162	0.906	P	0.46585	0.521	D	0.88471	0.3062	10	0.40728	T	0.16	.	17.9007	0.88902	0.0:1.0:0.0:0.0	.	539	Q14993	COJA1_HUMAN	T	539;161	ENSP00000316030:P539T;ENSP00000377013:P161T	ENSP00000316030:P539T	P	+	1	0	COL19A1	70909422	0.990000	0.36364	1.000000	0.80357	0.470000	0.32858	3.106000	0.50322	2.723000	0.93209	0.585000	0.79938	CCA		PASS	0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			56	50	56	50	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93967179	93967179	+	Splice_Site	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:93967179C>A	ENST00000369303.4	-	12	2357		c.e12+1			NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7						brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGGTACTTACCCTGAGAAAT	0.318																																						uc003poe.2																			1	Unknown(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.e12+1		ephrin receptor EphA7 precursor							84.0	86.0	85.0					6																	93967179		2203	4300	6503	SO:0001630	splice_region_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967179C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2172+1G>T	6.37:g.93967179C>A						EPHA7_uc003pof.2_Splice_Site_p.R719_splice|EPHA7_uc011eac.1_Splice_Site_p.R720_splice	p.R724_splice	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	12	2413	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)						A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Splice_Site	SNP	ENST00000369303.4	37	c.2172_splice	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626586	0.87560	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA7	94023900	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.625000	0.83145	2.784000	0.95788	0.585000	0.79938	.		PASS	0.318	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		Intron	35	45	35	45	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653353	159653353	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:159653353C>T	ENST00000297267.9	+	11	2009	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	FNDC1_ENST00000340366.6_Silent_p.S540S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	603					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S603S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGGCTTTTCCCTGGCCACGC	0.701																																						uc010kjv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1807-1809)TCC>TCT		fibronectin type III domain containing 1							20.0	25.0	23.0					6																	159653353		2001	4162	6163	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653353C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1809C>T	6.37:g.159653353C>T						FNDC1_uc010kjw.1_Silent_p.S488S	p.S603S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2009	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	603					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1809C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.276	0.236377	0.10023	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.63	-9.27	0.00659	.	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.04767	-1.0928	4	.	.	.	2.282	2.0959	0.03667	0.5158:0.244:0.0928:0.1474	.	.	.	.	S	499	.	.	P	+	1	0	FNDC1	159573343	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.778000	0.00775	-3.883000	0.00095	-0.832000	0.03076	CCT		PASS	0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		15	13	15	13	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160679418	160679418	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:160679418G>A	ENST00000366953.3	-	1	630	c.372C>T	c.(370-372)gaC>gaT	p.D124D	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.D103D	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	124					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.D124D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACACCCAGCCGTCCCGGCAGG	0.627																																						uc003qtf.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(370-372)GAC>GAT		solute carrier family 22 member 2							55.0	64.0	61.0					6																	160679418		2201	4299	6500	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679418G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.372C>T	6.37:g.160679418G>A						SLC22A2_uc003qte.1_Silent_p.D124D|SLC22A2_uc003qth.1_Silent_p.D124D	p.D124D	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	542	-		Breast(66;0.000776)|Ovarian(120;0.0303)	124			Extracellular (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.372C>T	CCDS5276.1																																																																																				PASS	0.627	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		39	71	39	71	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648567	169648567	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:169648567G>T	ENST00000366787.3	-	4	803	c.554C>A	c.(553-555)gCg>gAg	p.A185E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	185	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A185E(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCTCTTTTCCGCCTGCAGGTG	0.617																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(553-555)GCG>GAG		thrombospondin 2 precursor							87.0	90.0	89.0					6																	169648567		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648567G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.554C>A	6.37:g.169648567G>T	ENSP00000355751:p.Ala185Glu						p.A185E	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	802	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	185			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.554C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294032	0.23564	.	.	ENSG00000186340	ENST00000366787	T	0.02177	4.41	4.5	1.65	0.23941	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.393433	0.17482	U	0.172693	T	0.00724	0.0024	L	0.36672	1.1	0.09310	N	1	B	0.31054	0.306	B	0.30782	0.12	T	0.48234	-0.9053	10	0.66056	D	0.02	-3.3293	5.2759	0.15649	0.2243:0.0:0.6325:0.1431	.	185	P35442	TSP2_HUMAN	E	185	ENSP00000355751:A185E	ENSP00000355751:A185E	A	-	2	0	THBS2	169390492	0.970000	0.33590	0.000000	0.03702	0.218000	0.24690	4.984000	0.63838	0.090000	0.17273	0.563000	0.77884	GCG		PASS	0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		88	90	88	90	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170597490	170597490	+	Silent	SNP	C	C	T	rs200138835		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:170597490C>T	ENST00000366756.3	-	4	840	c.507G>A	c.(505-507)acG>acA	p.T169T	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	169					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.T169T(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		ACTTGAGGTCCGTGCGGCCGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17164	0.0		0.0	False		,,,				2504	0.001					uc003qxm.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(505-507)ACG>ACA		delta-like 1 precursor		C		0,4406		0,0,2203	70.0	58.0	62.0		507	-9.0	0.3	6		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/724	170597490	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170597490C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.507G>A	6.37:g.170597490C>T						DLL1_uc011ehc.1_Silent_p.T169T	p.T169T	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	4	977	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	169			Extracellular (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.507G>A	CCDS5313.1																																																																																				PASS	0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			31	36	31	36	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18767272	18767272	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:18767272G>C	ENST00000432645.2	+	12	1792	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	HDAC9_ENST00000406451.4_Missense_Mutation_p.D598H|HDAC9_ENST00000401921.1_Missense_Mutation_p.D557H|HDAC9_ENST00000441542.2_Missense_Mutation_p.D601H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	598					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D601H(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTTGGCATGGATGGATTAGA	0.582																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1792-1794)GAT>CAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						46.0	52.0	50.0					7																	18767272		2028	4193	6221	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767272G>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1792G>C	7.37:g.18767272G>C	ENSP00000410337:p.Asp598His					HDAC9_uc003sue.2_Missense_Mutation_p.D598H|HDAC9_uc011jyd.1_Missense_Mutation_p.D598H|HDAC9_uc003sui.2_Missense_Mutation_p.D601H|HDAC9_uc003suj.2_Missense_Mutation_p.D557H|HDAC9_uc003sua.1_Missense_Mutation_p.D576H|HDAC9_uc010kue.1_Missense_Mutation_p.D253H	p.D598H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			12	1833	+	all_lung(11;0.187)		598					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1792G>C	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052884	0.55218	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.27	5.27	0.74061	.	0.681246	0.13304	N	0.398010	T	0.42988	0.1227	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P;P;D	0.56521	0.729;0.899;0.729;0.729;0.61;0.729;0.976	B;B;B;B;B;B;B	0.43728	0.371;0.371;0.371;0.371;0.205;0.371;0.429	T	0.33675	-0.9859	10	0.52906	T	0.07	-29.1107	9.899	0.41335	0.1523:0.0:0.8477:0.0	.	598;510;557;601;598;598;576	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	H	598;557;598;601;510	ENSP00000384657:D598H;ENSP00000383912:D557H;ENSP00000410337:D598H;ENSP00000408617:D601H	ENSP00000339165:D510H	D	+	1	0	HDAC9	18733797	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.862000	0.48388	2.619000	0.88677	0.557000	0.71058	GAT		PASS	0.582	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			9	27	9	27	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21747435	21747436	+	Missense_Mutation	DNP	GA	GA	CT	rs376900363		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:21747435_21747436GA>CT	ENST00000409508.3	+	40	6696_6697	c.6665_6666GA>CT	c.(6664-6666)cGA>cCT	p.R2222P	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2229P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2229	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2229P(2)|p.R2229R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATGCTACCCGAGAATGGAAAG	0.376									Kartagener syndrome																													uc003svc.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6685-6687)CGA>CCA|c.(6685-6687)CGA>CGT		dynein, axonemal, heavy chain 11																																				SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21747435G>C|g.chr7:21747436A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		Exception_encountered	7.37:g.21747435_21747436delinsCT	ENSP00000475939:p.Arg2222Pro						p.R2229P|p.R2229R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			41	6717|6718	+			2229			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation|Silent	SNP	ENST00000409508.3	37	c.6686G>C|c.6687A>T																																																																																					PASS	0.376	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		18	75|74	18	74	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23205516	23205516	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:23205516C>T	ENST00000339077.5	+	8	1379	c.1136C>T	c.(1135-1137)gCt>gTt	p.A379V	KLHL7_ENST00000542558.1_Missense_Mutation_p.A154V|KLHL7_ENST00000539124.1_Missense_Mutation_p.A303V|KLHL7_ENST00000545443.1_Missense_Mutation_p.A357V|KLHL7_ENST00000409689.1_Missense_Mutation_p.A331V|KLHL7_ENST00000322231.7_Missense_Mutation_p.A357V	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	379					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.A357V(1)|p.A379V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCTGCATGTGCTGCAGAAGGC	0.438																																						uc003svs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1135-1137)GCT>GTT		kelch-like 7 isoform 1							87.0	95.0	92.0					7																	23205516		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205516C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1136C>T	7.37:g.23205516C>T	ENSP00000343273:p.Ala379Val					KLHL7_uc003svr.3_Missense_Mutation_p.A357V|KLHL7_uc011jys.1_Missense_Mutation_p.A303V|KLHL7_uc011jyt.1_Missense_Mutation_p.A154V|KLHL7_uc003svt.2_Missense_Mutation_p.A331V|KLHL7_uc011jyv.1_Missense_Mutation_p.A154V	p.A379V	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			8	1429	+			379			Kelch 2.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1136C>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.775061	0.31411	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.049942	0.85682	D	0.000000	T	0.63105	0.2483	N	0.16567	0.415	0.80722	D	1	P;D;P	0.69078	0.58;0.997;0.649	B;P;B	0.51355	0.055;0.667;0.065	T	0.59247	-0.7490	10	0.02654	T	1	.	19.9926	0.97371	0.0:1.0:0.0:0.0	.	154;379;357	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	V	220;345;357;379;303;154;331;357	ENSP00000322958:A357V;ENSP00000343273:A379V;ENSP00000441136:A303V;ENSP00000442367:A154V;ENSP00000386263:A331V;ENSP00000442366:A357V	ENSP00000322958:A357V	A	+	2	0	KLHL7	23172041	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.729000	0.93468	0.467000	0.42956	GCT		PASS	0.438	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		90	112	90	112	---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45113885	45113885	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:45113885C>T	ENST00000258781.6	+	9	1081	c.932C>T	c.(931-933)tCa>tTa	p.S311L	CCM2_ENST00000475551.1_Missense_Mutation_p.S305L|CCM2_ENST00000544363.1_Missense_Mutation_p.S220L|CCM2_ENST00000381112.3_Missense_Mutation_p.S332L|CCM2_ENST00000541586.1_Missense_Mutation_p.S253L|CCM2_ENST00000474617.1_Missense_Mutation_p.S214L|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	311	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)		p.S332L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACCAAGCTGTCATCACAGGAG	0.607																																						uc003tmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)TCA>TTA		cerebral cavernous malformation 2 isoform 2							59.0	53.0	55.0					7																	45113885		2203	4300	6503	SO:0001583	missense	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45113885C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.932C>T	7.37:g.45113885C>T	ENSP00000258781:p.Ser311Leu					CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S253L|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.S220L|CCM2_uc003tms.2_Missense_Mutation_p.S332L	p.S311L	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			9	1078	+			311					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.932C>T	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988341	0.93106	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;1.0	D;D;D;D	0.83275	0.996;0.993;0.99;0.996	T	0.69124	-0.5228	10	0.72032	D	0.01	-13.5416	18.0457	0.89331	0.0:1.0:0.0:0.0	.	332;220;253;311	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	L	311;253;220;305;332;214	ENSP00000258781:S311L;ENSP00000444725:S253L;ENSP00000438035:S220L;ENSP00000417180:S305L;ENSP00000370503:S332L;ENSP00000419474:S214L	ENSP00000258781:S311L	S	+	2	0	CCM2	45080410	1.000000	0.71417	0.952000	0.39060	0.846000	0.48090	6.085000	0.71343	2.613000	0.88420	0.561000	0.74099	TCA		PASS	0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		29	53	29	53	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50530953	50530953	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:50530953G>T	ENST00000444124.2	-	14	1619	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	DDC_ENST00000431062.1_Missense_Mutation_p.D380E|DDC_ENST00000357936.5_Missense_Mutation_p.D473E|DDC_ENST00000426377.1_Missense_Mutation_p.D395E	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	473					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.D473E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTCGCAGCACGTCGGCCGCCA	0.597																																						uc003tpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1417-1419)GAC>GAA		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						59.0	49.0	52.0					7																	50530953		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530953G>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1419C>A	7.37:g.50530953G>T	ENSP00000403644:p.Asp473Glu					DDC_uc010kza.2_Missense_Mutation_p.D388E|DDC_uc003tpg.3_Missense_Mutation_p.D473E	p.D473E	NM_000790	NP_000781	P20711	DDC_HUMAN			14	1505	-	Glioma(55;0.08)|all_neural(89;0.245)		473					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1419C>A	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.179|1.179	-0.638589|-0.638589	0.03557|0.03557	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36|.	5.44|5.44	-10.9|-10.9	0.00192|0.00192	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.939160|.	0.09036|.	N|.	0.858062|.	T|T	0.04998|0.04998	0.0134|0.0134	N|N	0.00510|0.00510	-1.415|-1.415	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.16630|0.16630	-1.0396|-1.0396	10|5	0.02654|.	T|.	1|.	4.6018|4.6018	2.2796|2.2796	0.04111|0.04111	0.2549:0.3186:0.0768:0.3496|0.2549:0.3186:0.0768:0.3496	.|.	473;473|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	E|K	473;380;395;473|354	ENSP00000350616:D473E;ENSP00000399184:D380E;ENSP00000395069:D395E;ENSP00000403644:D473E|.	ENSP00000350616:D473E|.	D|T	-|-	3|2	2|0	DDC|DDC	50498447|50498447	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.896000|-3.896000	0.00340|0.00340	-3.146000|-3.146000	0.00232|0.00232	-1.291000|-1.291000	0.01355|0.01355	GAC|ACG		PASS	0.597	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			12	22	12	22	---	---	---	---
SEC61G	23480	broad.mit.edu	37	7	54823501	54823501	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:54823501C>G	ENST00000415949.1	-	4	534	c.168G>C	c.(166-168)ttG>ttC	p.L56F	SEC61G_ENST00000395535.3_Missense_Mutation_p.L56F|SEC61G_ENST00000450622.1_Missense_Mutation_p.L56F|SEC61G_ENST00000352861.4_Missense_Mutation_p.L56F			P60059	SC61G_HUMAN	Sec61 gamma subunit	56					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)	p.L56F(1)		kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			GAATATGGATCAATTTCACAA	0.323																																						uc003tqf.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(166-168)TTG>TTC		Sec61 gamma subunit							91.0	90.0	90.0					7																	54823501		2203	4300	6503	SO:0001583	missense	23480				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:54823501C>G	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.168G>C	7.37:g.54823501C>G	ENSP00000388337:p.Leu56Phe					SEC61G_uc003tqg.2_Missense_Mutation_p.L56F	p.L56F	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		3	259	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		56			Helical; (Potential).		B2R4J0|P38384|Q6IB25	Missense_Mutation	SNP	ENST00000415949.1	37	c.168G>C	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715647	0.68844	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.57	4.69	0.59074	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74864	-0.3519	8	0.87932	D	0	-15.0491	8.1085	0.30900	0.0:0.757:0.1585:0.0846	.	56	P60059	SC61G_HUMAN	F	56	.	ENSP00000341538:L56F	L	-	3	2	SEC61G	54790995	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.331000	0.43894	1.365000	0.46057	0.650000	0.86243	TTG		PASS	0.323	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		5	178	5	178	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964016	88964016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:88964016G>T	ENST00000333190.4	+	4	2329	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	574							metal ion binding (GO:0046872)	p.E574*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATGATTTGGAAATGAAAAA	0.353										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1720-1722)GAA>TAA		zinc finger protein 804B							44.0	47.0	46.0					7																	88964016		2197	4297	6494	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88964016G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1720G>T	7.37:g.88964016G>T	ENSP00000329638:p.Glu574*	HNSCC(36;0.09)					p.E574*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2258	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		574					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.1720G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	37	6.296321	0.97453	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.49	0.157	0.14915	.	0.619991	0.16131	N	0.228183	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.2933	3.9846	0.09509	0.3388:0.3496:0.3117:0.0	.	.	.	.	X	574	.	ENSP00000329638:E574X	E	+	1	0	ZNF804B	88801952	1.000000	0.71417	0.930000	0.37139	0.091000	0.18340	1.637000	0.37155	0.125000	0.18397	-0.878000	0.02970	GAA		PASS	0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		41	112	41	112	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93106944	93106944	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:93106944C>T	ENST00000394441.1	-	4	557	c.242G>A	c.(241-243)tGc>tAc	p.C81Y	CALCR_ENST00000426151.1_Missense_Mutation_p.C81Y|CALCR_ENST00000359558.2_Missense_Mutation_p.C99Y|CALCR_ENST00000360249.4_Missense_Mutation_p.C81Y|CALCR_ENST00000421592.1_Missense_Mutation_p.C81Y	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	99					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.C99Y(1)|p.C81Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GTCATCCCAGCACAGCCATCC	0.413																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(295-297)TGC>TAC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						94.0	79.0	84.0					7																	93106944		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93106944C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.242G>A	7.37:g.93106944C>T	ENSP00000377959:p.Cys81Tyr					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.C81Y|CALCR_uc003umw.2_Missense_Mutation_p.C81Y	p.C99Y	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	557	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		81			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.296G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203203	0.79127	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	4.06	4.06	0.47325	.	.	.	.	.	D	0.90123	0.6914	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93847	0.7142	9	0.87932	D	0	.	16.1994	0.82060	0.0:1.0:0.0:0.0	.	99;81	F5H605;A4D1G6	.;.	Y	99;81;81;81;81;81	ENSP00000352561:C99Y;ENSP00000353385:C81Y;ENSP00000399552:C81Y;ENSP00000377959:C81Y;ENSP00000389295:C81Y	ENSP00000352561:C99Y	C	-	2	0	CALCR	92944880	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.123000	0.77176	2.544000	0.85801	0.557000	0.71058	TGC		PASS	0.413	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		26	64	26	64	---	---	---	---
EPO	2056	broad.mit.edu	37	7	100319236	100319236	+	Silent	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:100319236C>G	ENST00000252723.2	+	2	250	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	23					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)	p.L23L(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCTGGGCCTCCCAGTCCTGG	0.632																																						uc003uwi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(67-69)CTC>CTG		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						63.0	54.0	57.0					7																	100319236		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100319236C>G	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.69C>G	7.37:g.100319236C>G						EPO_uc011kkc.1_Silent_p.L23L	p.L23L	NM_000799	NP_000790	P01588	EPO_HUMAN			2	250	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		23					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.69C>G	CCDS5705.1																																																																																				PASS	0.632	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		12	44	12	44	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551264	100551264	+	Silent	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:100551264C>G	ENST00000319509.7	+	1	15	c.15C>G	c.(13-15)gtC>gtG	p.V5V				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1670					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.V5V(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTCCACAGTCAGCACATCCA	0.517																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							193.0	182.0	185.0					7																	100551264		876	1991	2867	SO:0001819	synonymous_variant	0							g.chr7:100551264C>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.15C>G	7.37:g.100551264C>G						uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.515C>G																																																																																					PASS	0.517	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		60	147	60	147	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103206705	103206705	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:103206705A>G	ENST00000428762.1	-	33	5061	c.4902T>C	c.(4900-4902)tcT>tcC	p.S1634S	RELN_ENST00000424685.2_Silent_p.S1634S|RELN_ENST00000343529.5_Silent_p.S1634S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1634					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1634S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGTATCCATAGAGAGACAGT	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4900-4902)TCT>TCC		reelin isoform a							86.0	81.0	83.0					7																	103206705		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103206705A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4902T>C	7.37:g.103206705A>G						RELN_uc010liz.2_Silent_p.S1634S	p.S1634S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5062	-			1634					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.4902T>C	CCDS47680.1																																																																																				PASS	0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	132	7	132	---	---	---	---
ZNF277	11179	broad.mit.edu	37	7	111936011	111936011	+	Splice_Site	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:111936011T>C	ENST00000361822.3	+	3	510	c.381T>C	c.(379-381)ttT>ttC	p.F127F	ZNF277_ENST00000450657.1_Splice_Site_p.F127F	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	127					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.F127F(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTGCTCCATTTGGTAAGTGTA	0.313																																						uc003vge.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(379-381)TTT>TTC		zinc finger protein (C2H2 type) 277							93.0	95.0	95.0					7																	111936011		2203	4298	6501	SO:0001630	splice_region_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111936011T>C	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.382+1T>C	7.37:g.111936011T>C						ZNF277_uc003vgd.2_Silent_p.F127F|ZNF277_uc003vgf.2_Silent_p.F49F|ZNF277_uc003vgg.2_5'UTR	p.F127F	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN			3	510	+			127					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.381T>C	CCDS5755.2																																																																																				PASS	0.313	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	Silent	5	218	5	218	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138252398	138252398	+	Splice_Site	SNP	A	A	C	rs528437838		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:138252398A>C	ENST00000343526.4	+	10	1918	c.1703A>C	c.(1702-1704)cAg>cCg	p.Q568P	TRIM24_ENST00000415680.2_Splice_Site_p.Q534P|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	568					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q534P(1)|p.Q568P(1)|p.Q492P(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GCCATAAAACAGGTATATATC	0.383																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1702-1704)CAG>CCG		transcriptional intermediary factor 1 alpha							67.0	65.0	66.0					7																	138252398		2203	4300	6503	SO:0001630	splice_region_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138252398A>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1704+1A>C	7.37:g.138252398A>C						TRIM24_uc003vub.2_Missense_Mutation_p.Q534P	p.Q568P	NM_015905	NP_056989	O15164	TIF1A_HUMAN			10	1918	+			568					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1703A>C	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493191	0.64186	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78126	-1.08;-1.15	5.55	5.55	0.83447	.	0.184837	0.47852	D	0.000210	D	0.83677	0.5306	M	0.65498	2.005	0.58432	D	0.999997	D;D	0.67145	0.996;0.994	P;P	0.59703	0.806;0.862	T	0.82165	-0.0592	10	0.28530	T	0.3	-2.6977	13.9081	0.63848	1.0:0.0:0.0:0.0	.	568;534	O15164;O15164-2	TIF1A_HUMAN;.	P	568;479;534;492	ENSP00000340507:Q568P;ENSP00000390829:Q534P	ENSP00000340507:Q568P	Q	+	2	0	TRIM24	137902938	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.620000	0.67736	2.111000	0.64477	0.482000	0.46254	CAG		PASS	0.383	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	Missense_Mutation	23	92	23	92	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140494110	140494110	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:140494110C>G	ENST00000288602.6	-	8	1198	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	380		Breakpoint for translocation to form KIAA1549-BRAF fusion protein.			activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D380H(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATACTTACATCAATATTGACA	0.348		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - Missense(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1138-1140)GAT>CAT		B-Raf	Sorafenib(DB00398)						145.0	131.0	136.0					7																	140494110		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140494110C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1138G>C	7.37:g.140494110C>G	ENSP00000288602:p.Asp380His						p.D380H	NM_004333	NP_004324	P15056	BRAF_HUMAN			8	1199	-	Melanoma(164;0.00956)		380				Breakpoint for translocation to form KIAA1549-BRAF fusion protein.	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1138G>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647226	0.87958	.	.	ENSG00000157764	ENST00000288602	T	0.76316	-1.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	P	0.56700	0.804	T	0.83166	-0.0096	10	0.62326	D	0.03	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	380	P15056	BRAF_HUMAN	H	380	ENSP00000288602:D380H	ENSP00000288602:D380H	D	-	1	0	BRAF	140140579	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.398000	0.79919	2.706000	0.92434	0.655000	0.94253	GAT		PASS	0.348	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		276	149	276	149	---	---	---	---
SSBP1	6742	broad.mit.edu	37	7	141443496	141443496	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:141443496A>T	ENST00000481508.1	+	4	656	c.221A>T	c.(220-222)cAa>cTa	p.Q74L	SSBP1_ENST00000265304.6_Missense_Mutation_p.Q74L|SSBP1_ENST00000484178.1_Missense_Mutation_p.Q74L|SSBP1_ENST00000465582.1_Missense_Mutation_p.Q74L|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000498107.1_Missense_Mutation_p.Q74L	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	74	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.Q74L(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					GAAGTTTACCAACTGGGTGAG	0.358																																						uc003vwo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)CAA>CTA		single-stranded DNA binding protein 1 precursor							99.0	102.0	101.0					7																	141443496		2203	4300	6503	SO:0001583	missense	6742				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding	g.chr7:141443496A>T	M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.221A>T	7.37:g.141443496A>T	ENSP00000419665:p.Gln74Leu					SSBP1_uc011kri.1_Missense_Mutation_p.Q74L|SSBP1_uc010lnp.1_Missense_Mutation_p.Q74L	p.Q74L	NM_003143	NP_003134	Q04837	SSBP_HUMAN			4	299	+	Melanoma(164;0.0171)		74			SSB.			Missense_Mutation	SNP	ENST00000481508.1	37	c.221A>T	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953134	0.34471	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.51	5.51	0.81932	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.302095	0.37857	N	0.001910	T	0.59918	0.2229	M	0.82517	2.595	0.35696	D	0.815208	P;P	0.41345	0.746;0.507	B;B	0.33568	0.166;0.166	T	0.76130	-0.3072	9	0.87932	D	0	-20.7859	15.6276	0.76874	1.0:0.0:0.0:0.0	.	74;74	B7Z268;Q04837	.;SSBP_HUMAN	L	74	.	ENSP00000265304:Q74L	Q	+	2	0	SSBP1	141089965	1.000000	0.71417	0.989000	0.46669	0.414000	0.31173	4.621000	0.61233	2.094000	0.63399	0.459000	0.35465	CAA		PASS	0.358	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143		50	146	50	146	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771480	143771480	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:143771480C>A	ENST00000408898.2	+	1	206	c.168C>A	c.(166-168)acC>acA	p.T56T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T56T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GACTCCACACCCCCATGTACT	0.572																																						uc011ktx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)ACC>ACA		olfactory receptor, family 2, subfamily A,							81.0	82.0	82.0					7																	143771480		2203	4300	6503	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771480C>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.168C>A	7.37:g.143771480C>A							p.T56T	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	168	+	Melanoma(164;0.0783)		56			Cytoplasmic (Potential).		B2RNC9	Silent	SNP	ENST00000408898.2	37	c.168C>A	CCDS43669.1																																																																																				PASS	0.572	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			92	108	92	108	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150698697	150698697	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:150698697A>G	ENST00000484524.1	+	11	1494	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E	NOS3_ENST00000297494.3_Silent_p.E498E|NOS3_ENST00000461406.1_Silent_p.E292E|NOS3_ENST00000467517.1_Silent_p.E498E	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E498E(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTTAAAGAAGTGGCCAAGT	0.652																																						uc003wif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1492-1494)GAA>GAG		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						95.0	115.0	108.0					7																	150698697		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698697A>G		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1494A>G	7.37:g.150698697A>G						NOS3_uc011kuy.1_Silent_p.E292E|NOS3_uc011kuz.1_Silent_p.E498E|NOS3_uc011kva.1_Silent_p.E498E|NOS3_uc011kvb.1_Silent_p.E498E	p.E498E	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1790	+	all_neural(206;0.219)		498			Calmodulin-binding (Potential).		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1494A>G	CCDS55182.1																																																																																				PASS	0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		92	157	92	157	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28988108	28988108	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:28988108G>T	ENST00000524189.1	-	24	3055	c.3017C>A	c.(3016-3018)cCt>cAt	p.P1006H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1006					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.P1006H(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CACTTCTACAGGGCAGTATTC	0.423																																						uc003xhh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3016-3018)CCT>CAT		kinesin family member 13B							139.0	131.0	134.0					8																	28988108		1861	4113	5974	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28988108G>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3017C>A	8.37:g.28988108G>T	ENSP00000427900:p.Pro1006His					uc003xhi.1_Intron	p.P1006H	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	24	3076	-		Ovarian(32;0.000536)	1006					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3017C>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283625	0.80803	.	.	ENSG00000197892	ENST00000524189	T	0.79845	-1.31	4.41	4.41	0.53225	.	0.056311	0.64402	D	0.000001	D	0.89196	0.6646	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90879	0.4752	10	0.87932	D	0	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	1006	F8VPJ2	.	H	1006	ENSP00000427900:P1006H	ENSP00000427900:P1006H	P	-	2	0	KIF13B	29044027	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	9.130000	0.94437	2.265000	0.75225	0.650000	0.86243	CCT		PASS	0.423	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			4	147	4	147	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38961179	38961179	+	Missense_Mutation	SNP	G	G	A	rs147636313		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:38961179G>A	ENST00000487273.2	+	22	2498	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	807				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R807H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATTCCTGCCCGTCCTGCTCCT	0.413																																						uc003xmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2419-2421)CGT>CAT		ADAM metallopeptidase domain 9 isoform 1		G	HIS/ARG	0,4406		0,0,2203	160.0	160.0	160.0		2420	5.8	1.0	8	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM9	NM_003816.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	807/820	38961179	1,13005	2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38961179G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2420G>A	8.37:g.38961179G>A	ENSP00000419446:p.Arg807His					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.R807H	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		22	2498	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	807	Missing (in Ref. 2; no nucleotide entry).		Cytoplasmic (Potential).		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.2420G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400784	0.83120	0.0	1.16E-4	ENSG00000168615	ENST00000487273	T	0.03920	3.76	5.76	5.76	0.90799	.	0.058866	0.64402	D	0.000002	T	0.14700	0.0355	L	0.40543	1.245	0.50632	D	0.999883	D	0.76494	0.999	D	0.76071	0.987	T	0.00363	-1.1788	10	0.49607	T	0.09	.	15.4858	0.75564	0.0:0.0:1.0:0.0	.	807	Q13443	ADAM9_HUMAN	H	807	ENSP00000419446:R807H	ENSP00000419446:R807H	R	+	2	0	ADAM9	39080336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.788000	0.62439	2.706000	0.92434	0.655000	0.94253	CGT		PASS	0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			63	167	63	167	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547090	67547090	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:67547090C>T	ENST00000310421.4	-	3	3573	c.3315G>A	c.(3313-3315)caG>caA	p.Q1105Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1105					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.Q1105Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTTTTTCGCTGGGCCTCAA	0.448																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(3313-3315)CAG>CAA		valosin containing protein (p97)/p47 complex							63.0	65.0	64.0					8																	67547090		2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547090C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3315G>A	8.37:g.67547090C>T							p.Q1105Q	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3574	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1105					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.3315G>A	CCDS6192.1																																																																																				PASS	0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			79	159	79	159	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68140281	68140281	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:68140281C>G	ENST00000262215.3	-	25	3897	c.3508G>C	c.(3508-3510)Gta>Cta	p.V1170L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V624L|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.V8L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1170					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.V1170L(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATATTTCTACTATTTTTTGT	0.328																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3508-3510)GTA>CTA		brefeldin A-inhibited guanine							96.0	95.0	95.0					8																	68140281		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140281C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3508G>C	8.37:g.68140281C>G	ENSP00000262215:p.Val1170Leu					ARFGEF1_uc003xxl.1_Missense_Mutation_p.V624L|ARFGEF1_uc003xxn.1_Missense_Mutation_p.V153L	p.V1170L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		25	3898	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1170					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3508G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862201	0.91511	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.06	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.85130	0.997;0.927;0.927	D	0.88034	0.2777	10	0.87932	D	0	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1170;648;624	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	L	624;1170;8;19	ENSP00000428429:V624L;ENSP00000262215:V1170L;ENSP00000430891:V8L;ENSP00000429138:V19L	ENSP00000262215:V1170L	V	-	1	0	ARFGEF1	68302835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.335000	0.79485	0.650000	0.86243	GTA		PASS	0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		20	159	20	159	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480279	73480279	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:73480279C>T	ENST00000523207.1	+	2	898	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	104					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R104W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAATTTCTACCGGACCGGGAA	0.463																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(310-312)CGG>TGG		potassium voltage-gated channel, Shab-related							76.0	80.0	78.0					8																	73480279		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480279C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.310C>T	8.37:g.73480279C>T	ENSP00000430846:p.Arg104Trp						p.R104W	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	898	+	Breast(64;0.137)		104			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.310C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728234	0.69074	.	.	ENSG00000182674	ENST00000523207	T	0.80824	-1.42	6.17	4.22	0.49857	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.32918	U	0.005494	D	0.91768	0.7396	H	0.96398	3.815	0.50467	D	0.999875	D	0.89917	1.0	D	0.97110	1.0	D	0.92664	0.6144	10	0.87932	D	0	.	9.3834	0.38327	0.2288:0.6924:0.0:0.0788	.	104	Q92953	KCNB2_HUMAN	W	104	ENSP00000430846:R104W	ENSP00000430846:R104W	R	+	1	2	KCNB2	73642833	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.559000	0.45888	1.630000	0.50440	0.655000	0.94253	CGG		PASS	0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		48	108	48	108	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87076470	87076470	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:87076470A>G	ENST00000276616.2	-	2	650	c.576T>C	c.(574-576)taT>taC	p.Y192Y	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y192Y(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CACCTGGATGATAGTATAAGA	0.433																																						uc011lfy.1																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(574-576)TAT>TAC		protein serine kinase H2							66.0	71.0	69.0					8																	87076470		2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076470A>G	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.576T>C	8.37:g.87076470A>G							p.Y192Y	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	576	-			192			Protein kinase.		A0AV22	Silent	SNP	ENST00000276616.2	37	c.576T>C	CCDS6240.1																																																																																				PASS	0.433	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		14	146	14	146	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100779175	100779175	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:100779175T>C	ENST00000358544.2	+	40	7410	c.7299T>C	c.(7297-7299)agT>agC	p.S2433S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2408S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2433					protein transport (GO:0015031)			p.S2433S(1)|p.S2408S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGAACAGCAGTCAAAATGGAG	0.383																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7297-7299)AGT>AGC		vacuolar protein sorting 13B isoform 5							68.0	63.0	65.0					8																	100779175		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100779175T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7299T>C	8.37:g.100779175T>C						VPS13B_uc003yiw.2_Silent_p.S2408S	p.S2433S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7410	+	Breast(36;3.73e-07)		2433					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.7299T>C	CCDS6280.1																																																																																				PASS	0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		37	64	37	64	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101105711	101105711	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:101105711G>C	ENST00000360863.6	-	3	275	c.81C>G	c.(79-81)ttC>ttG	p.F27L	RGS22_ENST00000523437.1_Missense_Mutation_p.F27L|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	27					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.F27L(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTCTACAAGGAAATCATCTG	0.264																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(79-81)TTC>TTG		regulator of G-protein signaling 22							53.0	53.0	53.0					8																	101105711		1780	4043	5823	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101105711G>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.81C>G	8.37:g.101105711G>C	ENSP00000354109:p.Phe27Leu					RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.F27L|RGS22_uc010mbo.1_RNA	p.F27L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		3	276	-			27					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.81C>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	1.622	-0.521201	0.04171	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000517828;ENST00000520117	T;T;T	0.60672	0.17;0.17;1.65	5.45	0.0283	0.14158	.	0.095014	0.49916	D	0.000123	T	0.24160	0.0585	N	0.12502	0.225	0.28178	N	0.928296	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.13469	-1.0508	10	0.02654	T	1	.	0.473	0.00535	0.3018:0.1381:0.3346:0.2255	.	27;27	A8K944;Q8NE09	.;RGS22_HUMAN	L	27;27;27;25;20	ENSP00000354109:F27L;ENSP00000428212:F27L;ENSP00000427754:F25L	ENSP00000354109:F27L	F	-	3	2	RGS22	101174887	1.000000	0.71417	0.992000	0.48379	0.758000	0.43043	0.586000	0.23894	0.312000	0.23038	-1.012000	0.02466	TTC		PASS	0.264	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		47	64	47	64	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361290	105361290	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:105361290C>A	ENST00000297581.2	+	2	559	c.510C>A	c.(508-510)acC>acA	p.T170T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.T170T	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	170					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.T170T(1)									GGAACCAGACCCTGGCAGTCT	0.453																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(508-510)ACC>ACA		dendritic cell-specific transmembrane protein							94.0	93.0	93.0					8																	105361290		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361290C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.510C>A	8.37:g.105361290C>A							p.T170T	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	559	+			170					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.510C>A	CCDS6301.1																																																																																				PASS	0.453	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		79	129	79	129	---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134254284	134254284	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:134254284C>T	ENST00000414097.2	-	15	1792	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	NDRG1_ENST00000518176.1_Missense_Mutation_p.V56M|NDRG1_ENST00000537882.1_Missense_Mutation_p.V228M|NDRG1_ENST00000354944.5_Missense_Mutation_p.V239M|NDRG1_ENST00000518066.1_Missense_Mutation_p.V18M|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.V309M|NDRG1_ENST00000522476.1_Missense_Mutation_p.V243M	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	309					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.V309M(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGCCCTGCACGAAGTACTTG	0.587			T	ERG	prostate																																	uc003yuh.2				Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(925-927)GTG>ATG		N-myc downstream regulated 1							124.0	102.0	109.0					8																	134254284		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134254284C>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.925G>A	8.37:g.134254284C>T	ENSP00000404854:p.Val309Met					NDRG1_uc003yue.1_Missense_Mutation_p.V24M|NDRG1_uc003yuf.1_Missense_Mutation_p.V120M|NDRG1_uc003yug.2_Missense_Mutation_p.V309M|NDRG1_uc010mee.2_Missense_Mutation_p.V228M|NDRG1_uc010mef.2_Missense_Mutation_p.V243M|NDRG1_uc011ljh.1_Missense_Mutation_p.V137M|NDRG1_uc011lji.1_Missense_Mutation_p.V56M|NDRG1_uc003yui.1_5'Flank	p.V309M	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		15	1511	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		309					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.925G>A	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199500	0.79015	.	.	ENSG00000104419	ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476;ENST00000518066	T;T;T;T;T;T	0.31247	1.5;2.19;1.5;2.19;2.19;2.19	5.07	5.07	0.68467	.	0.053759	0.85682	D	0.000000	T	0.51143	0.1657	L	0.54908	1.71	0.52501	D	0.999954	D;D	0.76494	0.999;0.998	D;P	0.70016	0.967;0.888	T	0.49725	-0.8909	10	0.51188	T	0.08	-33.8471	17.4452	0.87577	0.0:1.0:0.0:0.0	.	56;309	E7ESM1;Q92597	.;NDRG1_HUMAN	M	309;64;239;309;228;56;137;243;18	ENSP00000319977:V309M;ENSP00000347028:V239M;ENSP00000404854:V309M;ENSP00000437443:V228M;ENSP00000429007:V56M;ENSP00000427894:V243M	ENSP00000319977:V309M	V	-	1	0	NDRG1	134323466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.998000	0.63927	2.359000	0.80004	0.561000	0.74099	GTG		PASS	0.587	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			20	39	20	39	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135490822	135490822	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:135490822G>A	ENST00000377838.3	-	16	3809	c.3635C>T	c.(3634-3636)aCg>aTg	p.T1212M	ZFAT_ENST00000523399.1_Missense_Mutation_p.T1150M|ZFAT_ENST00000429442.2_3'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.T1200M|ZFAT_ENST00000520356.1_Missense_Mutation_p.T1114M|ZFAT_ENST00000520214.1_Missense_Mutation_p.T1200M	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1212					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T1212M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCCGCCCTGCGTGTAGACAGT	0.652																																						uc003yup.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3634-3636)ACG>ATG		zinc finger protein 406 isoform ZFAT-1							27.0	32.0	30.0					8																	135490822		2121	4228	6349	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135490822G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3635C>T	8.37:g.135490822G>A	ENSP00000367069:p.Thr1212Met					ZFAT_uc011ljj.1_Missense_Mutation_p.T331M|ZFAT_uc003yun.2_Missense_Mutation_p.T1200M|ZFAT_uc003yuo.2_Missense_Mutation_p.T1200M|ZFAT_uc010meh.2_Missense_Mutation_p.T1114M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T1200M|ZFAT_uc010mej.2_Missense_Mutation_p.T1150M	p.T1212M	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		16	3810	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1212					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3635C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	-	13.57	2.276215	0.40294	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	T;T;T;T;T	0.15139	2.64;2.46;2.45;2.46;2.5	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.29908	0.895	0.52501	D	0.999952	P;D;D;D	0.89917	0.911;0.992;1.0;1.0	B;P;D;D	0.83275	0.084;0.571;0.996;0.996	T	0.09773	-1.0659	10	0.87932	D	0	-18.0114	17.111	0.86674	0.0:0.0:1.0:0.0	.	331;1150;1114;1212	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	M	1114;1200;1212;1200;132;1099;1150	ENSP00000427879:T1114M;ENSP00000427831:T1200M;ENSP00000367069:T1212M;ENSP00000428483:T1200M;ENSP00000429091:T1150M	ENSP00000326997:T1099M	T	-	2	0	ZFAT	135560004	1.000000	0.71417	0.990000	0.47175	0.265000	0.26407	7.785000	0.85724	2.281000	0.76405	0.651000	0.88453	ACG		PASS	0.652	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		2	2	2	2	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139158241	139158241	+	Silent	SNP	A	A	T	rs143974870		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr8:139158241A>T	ENST00000395297.1	-	15	3671	c.3501T>A	c.(3499-3501)ccT>ccA	p.P1167P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1167								p.P1167P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTTTCCTCCAGGGAGCCCCA	0.448										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(3499-3501)CCT>CCA		hypothetical protein LOC51059							88.0	92.0	91.0					8																	139158241		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139158241A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3501T>A	8.37:g.139158241A>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.P1068P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.P729P|FAM135B_uc003yvb.2_Missense_Mutation_p.W695R	p.P1167P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3672	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1167					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3501T>A	CCDS6375.2																																																																																				PASS	0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	109	14	109	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:21971036C>A	ENST00000304494.5	-	2	592	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(322-324)GAT>TAT		cyclin-dependent kinase inhibitor 2A isoform 1							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971036C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>T	9.37:g.21971036C>A	ENSP00000307101:p.Asp108Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L	p.D108Y	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	534	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.322G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308521|4.308521	0.81247|0.81247	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.94232|0.79845	-3.38;-3.38|-1.31;-1.25	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84678|0.84678	0.5525|0.5525	L|L	0.29908|0.29908	0.895|0.895	0.47308|0.47308	D|D	0.999383|0.999383	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.67548	1.0|0.952	D|D	0.85416|0.85416	0.1140|0.1140	9|10	0.87932|0.62326	D|D	0|0.03	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	108|163;122	ENSP00000307101:D108Y;ENSP00000394932:D108Y|ENSP00000355153:R163L;ENSP00000432664:R122L	ENSP00000307101:D108Y|ENSP00000355153:R163L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		15	16	15	16	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73236184	73236184	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:73236184T>C	ENST00000377111.2	-	14	2022	c.1779A>G	c.(1777-1779)aaA>aaG	p.K593K	TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396285.1_Silent_p.K440K|TRPM3_ENST00000423814.3_Silent_p.K620K|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000396292.4_Silent_p.K465K|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Silent_p.K452K|TRPM3_ENST00000408909.2_Silent_p.K452K|TRPM3_ENST00000377106.1_Silent_p.K465K|TRPM3_ENST00000377110.3_Silent_p.K593K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	618					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.K465K(1)|p.K593K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTTCAAGGCTTTGGGCTGTT	0.294																																						uc004aid.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1777-1779)AAA>AAG		transient receptor potential cation channel,							62.0	63.0	62.0					9																	73236184		2202	4300	6502	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73236184T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1779A>G	9.37:g.73236184T>C						TRPM3_uc004ahu.2_Silent_p.K423K|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Silent_p.K465K|TRPM3_uc004ahx.2_Silent_p.K452K|TRPM3_uc004ahy.2_Intron|TRPM3_uc004ahz.2_Intron|TRPM3_uc004aia.2_Silent_p.K440K|TRPM3_uc004aib.2_Intron|TRPM3_uc004aic.2_Silent_p.K593K	p.K593K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			14	2023	-			618			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.1779A>G																																																																																					PASS	0.294	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		23	63	23	63	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79320513	79320513	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:79320513G>C	ENST00000376718.3	-	8	6800	c.6677C>G	c.(6676-6678)cCa>cGa	p.P2226R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P1867R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2226					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.P2226R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCAATCCTTGGGATTCTTCT	0.423																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(6676-6678)CCA>CGA		prune homolog 2							88.0	84.0	85.0					9																	79320513		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320513G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6677C>G	9.37:g.79320513G>C	ENSP00000365908:p.Pro2226Arg					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.P2226R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6801	-			2226					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6677C>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	9.417	1.082117	0.20309	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.44482	0.92;0.93	5.57	2.17	0.27698	.	1.814910	0.02584	N	0.099181	T	0.40670	0.1126	L	0.54323	1.7	0.09310	N	1	B	0.20671	0.047	B	0.21360	0.034	T	0.30822	-0.9965	10	0.66056	D	0.02	-1.147	4.5564	0.12138	0.1343:0.0:0.487:0.3787	.	2226	Q8WUY3	PRUN2_HUMAN	R	2226;1867;2225	ENSP00000365908:P2226R;ENSP00000397425:P1867R	ENSP00000365908:P2226R	P	-	2	0	PRUNE2	78510333	0.011000	0.17503	0.013000	0.15412	0.435000	0.31806	1.843000	0.39259	0.646000	0.30693	0.655000	0.94253	CCA		PASS	0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		57	130	57	130	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501062	90501062	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:90501062G>A	ENST00000325643.5	+	4	1726	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	554					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E554K(1)									TACATCCCAGGAGAGGACACA	0.562																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1660-1662)GAG>AAG		chromosome 9 open reading frame 79							97.0	103.0	101.0					9																	90501062		2203	4298	6501	SO:0001583	missense	286234					integral to membrane		g.chr9:90501062G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1660G>A	9.37:g.90501062G>A	ENSP00000322640:p.Glu554Lys					C9orf79_uc004apo.1_Missense_Mutation_p.E366K	p.E554K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1695	+			554					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1660G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	5.952	0.359732	0.11239	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06768	3.26	2.51	-2.25	0.06888	.	2.333530	0.01732	N	0.028885	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B;B	0.25169	0.119;0.05	B;B	0.23018	0.043;0.019	T	0.26155	-1.0111	10	0.06236	T	0.91	.	3.4248	0.07406	0.3641:0.2347:0.4012:0.0	.	554;206	Q6ZUB1;Q8NA33	CI079_HUMAN;.	K	554;206	ENSP00000322640:E554K	ENSP00000322640:E554K	E	+	1	0	C9orf79	89690882	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.694000	0.05115	-0.520000	0.06435	-0.362000	0.07510	GAG		PASS	0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		106	192	106	192	---	---	---	---
DIRAS2	54769	broad.mit.edu	37	9	93375779	93375779	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:93375779C>A	ENST00000375765.3	-	2	719	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	111					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.V111L(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ATGCTCTCCACGTCCCCTTTG	0.592																																						uc004aqx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GTG>TTG		Di-Ras2							101.0	87.0	92.0					9																	93375779		2203	4300	6503	SO:0001583	missense	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375779C>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.331G>T	9.37:g.93375779C>A	ENSP00000364919:p.Val111Leu						p.V111L	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN			2	442	-			111					B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	c.331G>T	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048958	0.36181	.	.	ENSG00000165023	ENST00000375765	T	0.68479	-0.33	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000004	T	0.52517	0.1739	N	0.25890	0.77	0.51767	D	0.999933	B	0.02656	0.0	B	0.08055	0.003	T	0.43540	-0.9385	10	0.26408	T	0.33	.	13.6095	0.62068	0.0:0.9234:0.0:0.0766	.	111	Q96HU8	DIRA2_HUMAN	L	111	ENSP00000364919:V111L	ENSP00000364919:V111L	V	-	1	0	DIRAS2	92415599	0.985000	0.35326	1.000000	0.80357	0.994000	0.84299	1.874000	0.39568	2.884000	0.98904	0.655000	0.94253	GTG		PASS	0.592	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			55	129	55	129	---	---	---	---
IARS	3376	broad.mit.edu	37	9	95050532	95050532	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:95050532G>A	ENST00000375643.3	-	3	418	c.152C>T	c.(151-153)aCt>aTt	p.T51I	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.T51I	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	51					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.T51I(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGCAGTCCAGTTGCAAAAGG	0.348																																						uc004art.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(151-153)ACT>ATT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						87.0	83.0	84.0					9																	95050532		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050532G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.152C>T	9.37:g.95050532G>A	ENSP00000364794:p.Thr51Ile					IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.T51I|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Silent_p.L7L	p.T51I	NM_013417	NP_038203	P41252	SYIC_HUMAN			3	409	-			51			HIGH region.		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.152C>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308106	0.95629	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	T;T;T	0.28069	1.63;1.63;1.63	6.03	6.03	0.97812	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80850	-0.1198	10	0.87932	D	0	-21.7178	20.1519	0.98089	0.0:0.0:1.0:0.0	.	51	P41252	SYIC_HUMAN	I	51	ENSP00000364794:T51I;ENSP00000406448:T51I;ENSP00000378922:T51I	ENSP00000364794:T51I	T	-	2	0	IARS	94090353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.799000	0.99117	2.861000	0.98227	0.655000	0.94253	ACT		PASS	0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		51	101	51	101	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101824556	101824556	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:101824556C>A	ENST00000375001.3	+	38	3984	c.3561C>A	c.(3559-3561)gaC>gaA	p.D1187E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1187	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.D1187E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCTGCCGACAGCCCTCCAC	0.433																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(3559-3561)GAC>GAA		alpha 1 type XV collagen precursor							93.0	88.0	90.0					9																	101824556		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101824556C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3561C>A	9.37:g.101824556C>A	ENSP00000364140:p.Asp1187Glu						p.D1187E	NM_001855	NP_001846	P39059	COFA1_HUMAN			38	3767	+		Acute lymphoblastic leukemia(62;0.0562)	1187	Missing (in Ref. 2; AAC78500).		Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3561C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058006	0.55325	.	.	ENSG00000204291	ENST00000375001	T	0.40476	1.03	5.88	2.57	0.30868	Collagenase NC10/endostatin (1);	0.628021	0.18164	N	0.149667	T	0.31979	0.0814	N	0.03608	-0.345	0.32091	N	0.59185	D	0.63046	0.992	P	0.59056	0.851	T	0.34750	-0.9816	10	0.27082	T	0.32	-21.8636	10.5883	0.45296	0.0:0.7597:0.0:0.2403	.	1187	P39059	COFA1_HUMAN	E	1187	ENSP00000364140:D1187E	ENSP00000364140:D1187E	D	+	3	2	COL15A1	100864377	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.279000	0.33191	0.812000	0.34326	0.555000	0.69702	GAC		PASS	0.433	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		42	109	42	109	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114184296	114184296	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:114184296G>C	ENST00000338205.5	-	14	1579	c.1360C>G	c.(1360-1362)Caa>Gaa	p.Q454E	KIAA0368_ENST00000259335.4_Missense_Mutation_p.Q632E			Q5VYK3	ECM29_HUMAN	KIAA0368	460					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.Q632E(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAAGCTTCTTGAATAGCAAGT	0.433																																						uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1894-1896)CAA>GAA		KIAA0368 protein							82.0	76.0	78.0					9																	114184296		1870	4105	5975	SO:0001583	missense	23392							g.chr9:114184296G>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1360C>G	9.37:g.114184296G>C	ENSP00000339889:p.Gln454Glu					KIAA0368_uc010muc.1_Missense_Mutation_p.Q454E	p.Q632E	NM_001080398	NP_001073867					16	1894	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.1894C>G		.	.	.	.	.	.	.	.	.	.	G	28.7	4.944169	0.92593	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.64618	-0.11	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	M	0.65498	2.005	0.80722	D	1	P	0.44776	0.843	P	0.58928	0.848	T	0.71862	-0.4464	10	0.33940	T	0.23	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	460	Q5VYK3	ECM29_HUMAN	E	454;632	ENSP00000259335:Q632E	ENSP00000259335:Q632E	Q	-	1	0	KIAA0368	113224117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.776000	0.95493	0.655000	0.94253	CAA		PASS	0.433	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		34	68	34	68	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118997697	118997697	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:118997697C>G	ENST00000328252.3	+	7	2882	c.2513C>G	c.(2512-2514)cCa>cGa	p.P838R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	838					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P838R(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGATGTCCCACTGACCATC	0.532																																						uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(2512-2514)CCA>CGA		pregnancy-associated plasma protein A							84.0	65.0	71.0					9																	118997697		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118997697C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2513C>G	9.37:g.118997697C>G	ENSP00000330658:p.Pro838Arg					PAPPA_uc011lxp.1_Missense_Mutation_p.P533R|PAPPA_uc011lxq.1_Intron	p.P838R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			7	2894	+			838					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2513C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133955	0.77662	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.03181	4.02	6.04	6.04	0.98038	.	0.047545	0.85682	D	0.000000	T	0.22399	0.0540	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.968	T	0.00029	-1.2293	10	0.87932	D	0	-8.4103	20.5948	0.99439	0.0:1.0:0.0:0.0	.	282;838	E7EMD3;Q13219	.;PAPP1_HUMAN	R	838;282	ENSP00000330658:P838R	ENSP00000330658:P838R	P	+	2	0	PAPPA	118037518	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.706000	0.68362	2.873000	0.98535	0.563000	0.77884	CCA		PASS	0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		16	41	16	41	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125487040	125487040	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:125487040T>C	ENST00000259466.1	+	1	772	c.772T>C	c.(772-774)Tat>Cat	p.Y258H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y258H(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GAGTGTCATCTATGTCTATTT	0.517																																						uc004bmu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)TAT>CAT		olfactory receptor, family 1, subfamily L,							138.0	123.0	128.0					9																	125487040		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125487040T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.772T>C	9.37:g.125487040T>C	ENSP00000259466:p.Tyr258His						p.Y258H	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	772	+			258			Helical; Name=6; (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.772T>C	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995694	0.35226	.	.	ENSG00000136939	ENST00000259466	T	0.00123	8.7	4.23	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.277746	0.26069	N	0.026521	T	0.00412	0.0013	M	0.73962	2.25	0.31630	N	0.649138	D	0.89917	1.0	D	0.91635	0.999	T	0.44065	-0.9352	10	0.87932	D	0	-14.7374	9.3026	0.37856	0.161:0.0:0.0:0.839	.	258	Q8NGR5	OR1L4_HUMAN	H	258	ENSP00000259466:Y258H	ENSP00000259466:Y258H	Y	+	1	0	OR1L4	124526861	0.287000	0.24315	0.992000	0.48379	0.609000	0.37215	2.697000	0.47060	0.663000	0.31027	0.248000	0.18094	TAT		PASS	0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			66	161	66	161	---	---	---	---
STRBP	55342	broad.mit.edu	37	9	125898705	125898705	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:125898705G>A	ENST00000348403.5	-	15	2016	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	STRBP_ENST00000360998.3_Silent_p.L515L|STRBP_ENST00000447404.2_Silent_p.L529L	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	529	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.L529L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TCTCTGAGATGAGTTCATACT	0.443																																						uc004bns.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(1585-1587)CTC>CTT		spermatid perinuclear RNA binding protein							136.0	124.0	128.0					9																	125898705		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125898705G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1587C>T	9.37:g.125898705G>A						STRBP_uc004bnt.2_Silent_p.L347L|STRBP_uc004bnu.2_Silent_p.L515L|STRBP_uc004bnv.2_Silent_p.L529L|STRBP_uc004bnr.2_Silent_p.L88L	p.L529L	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			15	2017	-			529			DRBM 2.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.1587C>T	CCDS6851.1																																																																																				PASS	0.443	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			5	198	5	198	---	---	---	---
FAM78A	286336	broad.mit.edu	37	9	134136488	134136488	+	Silent	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:134136488G>C	ENST00000372271.3	-	2	940	c.573C>G	c.(571-573)acC>acG	p.T191T	FAM78A_ENST00000372269.3_Silent_p.T188T|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	191								p.T191T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CCACCAGCCAGGTGGTGAAGC	0.602																																						uc004cak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(571-573)ACC>ACG		hypothetical protein LOC286336							103.0	93.0	97.0					9																	134136488		2203	4300	6503	SO:0001819	synonymous_variant	286336							g.chr9:134136488G>C	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.573C>G	9.37:g.134136488G>C						FAM78A_uc004caj.2_Silent_p.T188T	p.T191T	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	913	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	191					Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	c.573C>G	CCDS6941.2																																																																																				PASS	0.602	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		33	110	33	110	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135202804	135202804	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr9:135202804G>A	ENST00000224140.5	-	10	4363	c.4181C>T	c.(4180-4182)tCa>tTa	p.S1394L	SETX_ENST00000372169.2_Missense_Mutation_p.S1394L|SETX_ENST00000393220.1_Missense_Mutation_p.S1394L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1394					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S1394L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTATAATCTGACCTATCAGA	0.363																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4180-4182)TCA>TTA		senataxin							138.0	131.0	133.0					9																	135202804		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202804G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4181C>T	9.37:g.135202804G>A	ENSP00000224140:p.Ser1394Leu					SETX_uc004cbj.2_Missense_Mutation_p.S1013L|SETX_uc010mzt.2_Missense_Mutation_p.S1013L	p.S1394L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4364	-		Myeloproliferative disorder(178;0.204)	1394					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4181C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	6.347	0.432158	0.12045	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86694	-2.06;-2.16;-1.77	5.75	0.937	0.19494	.	4.448500	0.00424	N	0.000060	D	0.84197	0.5419	L	0.60455	1.87	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.11329	0.006;0.003;0.006	T	0.59742	-0.7397	10	0.32370	T	0.25	.	4.6985	0.12815	0.3224:0.0:0.4744:0.2032	.	1394;1394;1394	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1394	ENSP00000224140:S1394L;ENSP00000361242:S1394L;ENSP00000376913:S1394L	ENSP00000224140:S1394L	S	-	2	0	SETX	134192625	0.013000	0.17824	0.005000	0.12908	0.250000	0.25880	0.784000	0.26816	-0.026000	0.13895	-0.142000	0.14014	TCA		PASS	0.363	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		118	208	118	208	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324214	27324214	+	Silent	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:27324214T>C	ENST00000376087.4	-	24	3330	c.3165A>G	c.(3163-3165)ctA>ctG	p.L1055L	ANKRD26_ENST00000436985.2_Silent_p.L1071L|ANKRD26_ENST00000376070.3_Silent_p.L612L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1054					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L1055L(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTATCTTTTAGGTTAGACA	0.353																																						uc001ith.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3160-3162)CTA>CTG		ankyrin repeat domain 26							83.0	78.0	79.0					10																	27324214		1833	4094	5927	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27324214T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3165A>G	10.37:g.27324214T>C						ANKRD26_uc001itg.2_Silent_p.L741L|ANKRD26_uc009xku.1_Silent_p.L1055L	p.L1054L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3334	-			1054			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.3162A>G	CCDS41499.1																																																																																				PASS	0.353	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			60	75	60	75	---	---	---	---
TBATA	219793	broad.mit.edu	37	10	72535011	72535011	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:72535011A>G	ENST00000299290.1	-	8	1095	c.706T>C	c.(706-708)Tgt>Cgt	p.C236R	TBATA_ENST00000456372.2_Intron|TBATA_ENST00000394982.2_5'Flank	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	236					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.C236R(1)									AGGATCCGACACAGGAGCTCC	0.592																																						uc001jrj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(706-708)TGT>CGT		stromal protein associated with thymii and lymph							76.0	63.0	68.0					10																	72535011		2203	4300	6503	SO:0001583	missense	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72535011A>G	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.706T>C	10.37:g.72535011A>G	ENSP00000299290:p.Cys236Arg					C10orf27_uc010qjm.1_Missense_Mutation_p.C237R|C10orf27_uc009xqh.1_Intron|C10orf27_uc010qjn.1_Missense_Mutation_p.C235R|C10orf27_uc009xqi.1_RNA	p.C236R	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			8	1096	-			236					A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.706T>C	CCDS7308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.59|13.59	2.281499|2.281499	0.40394|0.40394	.|.	.|.	ENSG00000166220|ENSG00000166220	ENST00000299290|ENST00000536955	T|.	0.34275|.	1.37|.	5.33|5.33	4.17|4.17	0.49024|0.49024	.|.	0.225740|.	0.36815|.	N|.	0.002396|.	T|T	0.71745|0.71745	0.3376|0.3376	M|M	0.79258|0.79258	2.445|2.445	0.43250|0.43250	D|D	0.995171|0.995171	D;D;D|.	0.56746|.	0.977;0.96;0.96|.	P;P;P|.	0.58873|.	0.847;0.748;0.748|.	T|T	0.73244|0.73244	-0.4044|-0.4044	10|6	0.87932|0.87932	D|D	0|0	-1.0763|-1.0763	8.6953|8.6953	0.34291|0.34291	0.8306:0.0:0.0:0.1693|0.8306:0.0:0.0:0.1693	.|.	235;237;236|.	B7ZMN4;B7ZMN5;Q96M53|.	.;.;SPATL_HUMAN|.	R|A	236|258	ENSP00000299290:C236R|.	ENSP00000299290:C236R|ENSP00000438618:V258A	C|V	-|-	1|2	0|0	C10orf27|C10orf27	72205017|72205017	0.996000|0.996000	0.38824|0.38824	0.146000|0.146000	0.22360|0.22360	0.396000|0.396000	0.30629|0.30629	5.134000|5.134000	0.64770|0.64770	0.944000|0.944000	0.37579|0.37579	0.533000|0.533000	0.62120|0.62120	TGT|GTG		PASS	0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		10	30	10	30	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73571742	73571742	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:73571742T>C	ENST00000224721.6	+	65	9370	c.9365T>C	c.(9364-9366)aTg>aCg	p.M3122T	CDH23_ENST00000398788.3_Missense_Mutation_p.M877T|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3117					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.M3122T(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCATGGACATGCCTAACACC	0.632											OREG0020259	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9349-9351)ATG>ACG		cadherin-like 23 isoform 1 precursor							102.0	99.0	100.0					10																	73571742		1990	4161	6151	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571742T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9365T>C	10.37:g.73571742T>C	ENSP00000224721:p.Met3122Thr		OREG0020259	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1146	CDH23_uc001jsg.3_Missense_Mutation_p.M877T|CDH23_uc001jsh.3_Missense_Mutation_p.M877T|CDH23_uc001jsi.3_Missense_Mutation_p.M877T|CDH23_uc001jsj.3_5'UTR|CDH23_uc010qjr.1_5'UTR	p.M3117T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			64	9727	+			3117			Cytoplasmic (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9350T>C		.	.	.	.	.	.	.	.	.	.	T	18.27	3.586597	0.66105	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57436	0.4	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.51422	1.61	0.80722	D	1	B;B	0.27559	0.181;0.181	B;B	0.20184	0.028;0.028	T	0.41360	-0.9513	10	0.38643	T	0.18	.	16.1848	0.81942	0.0:0.0:0.0:1.0	.	3117;3117	E9PEX1;Q9H251	.;CAD23_HUMAN	T	3122;3117;3120;877	ENSP00000381768:M877T	ENSP00000224721:M3122T	M	+	2	0	CDH23	73241748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.591000	0.82666	2.232000	0.73038	0.528000	0.53228	ATG		PASS	0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		32	55	32	55	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134622290	134622290	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:134622290C>A	ENST00000368586.5	-	58	7883	c.7783G>T	c.(7783-7785)Gcc>Tcc	p.A2595S	TTC40_ENST00000263170.5_Missense_Mutation_p.A756S	NM_001200049.2	NP_001186978.2												p.A756S(1)|p.A2595S(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGTCCAGGCCTGCACTACC	0.652																																						uc010qux.1																			2	Substitution - Missense(2)		lung(2)								c.(6961-6963)GCC>TCC		Homo sapiens cDNA, FLJ17989.							30.0	27.0	28.0					10																	134622290		2199	4295	6494	SO:0001583	missense	0							g.chr10:134622290C>A																												ENST00000368586.5:c.7783G>T	10.37:g.134622290C>A	ENSP00000357575:p.Ala2595Ser						p.A2321S	NM_017609	NP_060079					50	6961	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.6961G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345957	0.41599	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12774	2.96;2.65	2.27	-1.99	0.07457	.	1.955520	0.03315	U	0.191056	T	0.09905	0.0243	N	0.22421	0.69	0.09310	N	1	B	0.24317	0.101	B	0.25140	0.058	T	0.37502	-0.9703	10	0.87932	D	0	.	4.3575	0.11185	0.0:0.4304:0.3:0.2695	.	756	Q8IYW2	CJ092_HUMAN	S	2595;756	ENSP00000357575:A2595S;ENSP00000263170:A756S	ENSP00000263170:A756S	A	-	1	0	C10orf93	134472280	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.763000	0.01802	-0.473000	0.06871	0.491000	0.48974	GCC		PASS	0.652	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			4	0	4	0	---	---	---	---
VENTX	27287	broad.mit.edu	37	10	135051452	135051452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:135051452C>T	ENST00000325980.9	+	1	545	c.34C>T	c.(34-36)Cag>Tag	p.Q12*		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	12					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q12*(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TCGTGGCCCGCAGCAGCTCTC	0.726																																						uc010quy.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(34-36)CAG>TAG		VENT homeobox							8.0	9.0	9.0					10																	135051452		2138	4225	6363	SO:0001587	stop_gained	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135051452C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.34C>T	10.37:g.135051452C>T	ENSP00000357556:p.Gln12*						p.Q12*	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	45	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	12					Q32MZ3	Nonsense_Mutation	SNP	ENST00000325980.9	37	c.34C>T	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532747	0.64972	.	.	ENSG00000151650	ENST00000325980	.	.	.	1.9	-3.8	0.04307	.	1.061170	0.07678	U	0.936572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	4.5699	0.12205	0.3079:0.2091:0.483:0.0	.	.	.	.	X	12	.	ENSP00000357556:Q12X	Q	+	1	0	VENTX	134901442	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.977000	0.03782	-1.458000	0.01916	-0.749000	0.03505	CAG		PASS	0.726	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		4	8	4	8	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:135440236C>A	ENST00000425520.1	-	1	63	c.11G>T	c.(10-12)gGa>gTa	p.G4V	FRG2B_ENST00000443774.1_Missense_Mutation_p.G4V	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus (GO:0005634)		p.G4V(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522																																						uc010qvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GGA>GTA		FSHD region gene 2 family, member B							212.0	247.0	235.0					10																	135440236		2203	4299	6502	SO:0001583	missense	441581					nucleus		g.chr10:135440236C>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.11G>T	10.37:g.135440236C>A	ENSP00000401310:p.Gly4Val						p.G4V	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	64	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	4					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.11G>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	5.261	0.233622	0.09969	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.42513	0.97;0.97	0.109	-0.218	0.13142	.	1.569480	0.04304	N	0.347742	T	0.46658	0.1404	L	0.27053	0.805	0.09310	N	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.24905	-1.0147	9	0.87932	D	0	-0.4595	.	.	.	.	4	Q96QU4	FRG2B_HUMAN	V	4	ENSP00000408343:G4V;ENSP00000401310:G4V	ENSP00000401310:G4V	G	-	2	0	FRG2B	135290226	0.995000	0.38212	0.031000	0.17742	0.032000	0.12392	-0.469000	0.06648	-1.122000	0.02945	-1.109000	0.02080	GGA		PASS	0.522	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		17	391	17	391	---	---	---	---
IRF7	3665	broad.mit.edu	37	11	612717	612717	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:612717G>A	ENST00000397574.2	-	11	1809	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	IRF7_ENST00000525445.1_Silent_p.L374L|IRF7_ENST00000397562.3_Silent_p.L187L|IRF7_ENST00000348655.6_Silent_p.L451L|IRF7_ENST00000397570.1_Silent_p.L451L|IRF7_ENST00000330243.5_Silent_p.L493L|IRF7_ENST00000397566.1_Silent_p.L493L	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	480					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.L493L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGACAGGCAGAGGCTGAGGC	0.602																																						uc001lqh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1438-1440)CTC>CTT		interferon regulatory factor 7 isoform a							59.0	67.0	65.0					11																	612717		2203	4299	6502	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:612717G>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1440C>T	11.37:g.612717G>A						IRF7_uc009ycb.2_Silent_p.L374L|IRF7_uc010qwf.1_Silent_p.L479L|IRF7_uc001lqf.2_Silent_p.L187L|IRF7_uc010qwg.1_Silent_p.L187L|IRF7_uc001lqg.2_Silent_p.L493L|IRF7_uc001lqi.2_Silent_p.L451L|IRF7_uc010qwh.1_Silent_p.L187L	p.L480L	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1810	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	480					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.1440C>T	CCDS7703.1																																																																																				PASS	0.602	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		38	20	38	20	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17552819	17552819	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:17552819A>G	ENST00000318024.4	-	4	377	c.269T>C	c.(268-270)cTg>cCg	p.L90P	USH1C_ENST00000527720.1_Missense_Mutation_p.L59P|USH1C_ENST00000527020.1_Missense_Mutation_p.L90P|USH1C_ENST00000005226.7_Missense_Mutation_p.L90P	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	90	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.L90P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGACGGTCCAGACGCACCTC	0.647																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)CTG>CCG		harmonin isoform a							51.0	46.0	48.0					11																	17552819		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17552819A>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.269T>C	11.37:g.17552819A>G	ENSP00000317018:p.Leu90Pro					USH1C_uc001mne.2_Missense_Mutation_p.L90P|USH1C_uc009yhb.2_Missense_Mutation_p.L90P|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.L54P	p.L90P	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			4	378	-			90			PDZ 1.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.269T>C	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084037	0.76642	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.69	4.56	0.56223	PDZ/DHR/GLGF (3);	0.076295	0.53938	D	0.000042	T	0.59018	0.2163	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.66937	-0.5797	10	0.87932	D	0	.	10.6102	0.45417	0.9232:0.0:0.0768:0.0	.	90;90;90	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	P	90;59;90;90;101	ENSP00000317018:L90P;ENSP00000432944:L59P;ENSP00000436934:L90P;ENSP00000005226:L90P;ENSP00000437128:L101P	ENSP00000005226:L90P	L	-	2	0	USH1C	17509395	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.167000	0.89668	0.983000	0.38602	0.459000	0.35465	CTG		PASS	0.647	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		14	21	14	21	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32456334	32456334	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:32456334G>C	ENST00000332351.3	-	1	842	c.558C>G	c.(556-558)agC>agG	p.S186R	WT1_ENST00000448076.3_Missense_Mutation_p.S186R|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000478367.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	118					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S118R(1)|p.P117fs*95(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ATGACGCCTGGCTGGGCGGAG	0.652			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.P117fs*95(1)|p.G186fs*34(1)	lung(1)|kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(556-558)AGC>AGG		Wilms tumor 1 isoform D							21.0	21.0	21.0					11																	32456334		2199	4297	6496	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32456334G>C		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.558C>G	11.37:g.32456334G>C	ENSP00000331327:p.Ser186Arg					WT1_uc001mto.1_Missense_Mutation_p.S186R|WT1_uc001mtp.1_Missense_Mutation_p.S186R|WT1_uc001mtq.1_Missense_Mutation_p.S186R|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank	p.S186R	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		1	754	-	Breast(20;0.247)		118					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000332351.3	37	c.558C>G	CCDS7878.2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415878	0.62511	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.85955	-2.05;-2.05;-2.05	3.24	3.24	0.37175	Wilm&apos (1);s tumour protein, N-terminal (1);	0.144445	0.42821	U	0.000641	D	0.83124	0.5186	N	0.22421	0.69	0.80722	D	1	D;D;D	0.63880	0.984;0.975;0.993	P;P;P	0.60012	0.732;0.867;0.809	T	0.83166	-0.0096	10	0.52906	T	0.07	.	9.6075	0.39643	0.0:0.0:0.7915:0.2085	.	191;118;191	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	R	186	ENSP00000331327:S186R;ENSP00000415516:S186R;ENSP00000413452:S186R	ENSP00000331327:S186R	S	-	3	2	WT1	32412910	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.641000	0.54360	1.795000	0.52594	0.462000	0.41574	AGC		PASS	0.652	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		9	13	9	13	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:45274136G>T	ENST00000020926.3	-	4	793	c.682C>A	c.(682-684)Ccc>Acc	p.P228T	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)CCC>ACC		synaptotagmin XIII							53.0	50.0	51.0					11																	45274136		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274136G>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.682C>A	11.37:g.45274136G>T	ENSP00000020926:p.Pro228Thr		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.P84T	p.P228T	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	808	-			228			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.682C>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665292	0.88251	.	.	ENSG00000019505	ENST00000020926	T	0.69175	-0.38	5.85	5.85	0.93711	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.060112	0.64402	D	0.000002	T	0.81014	0.4735	M	0.61703	1.905	0.53688	D	0.999972	D	0.69078	0.997	D	0.74023	0.982	T	0.80132	-0.1510	10	0.54805	T	0.06	.	20.1775	0.98187	0.0:0.0:1.0:0.0	.	228	Q7L8C5	SYT13_HUMAN	T	228	ENSP00000020926:P228T	ENSP00000020926:P228T	P	-	1	0	SYT13	45230712	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.706000	0.61845	2.771000	0.95319	0.561000	0.74099	CCC		PASS	0.682	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		34	29	34	29	---	---	---	---
ATG13	9776	broad.mit.edu	37	11	46690953	46690953	+	Splice_Site	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:46690953G>C	ENST00000434074.1	+	16	2036		c.e16-1		ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000312040.4_Splice_Site|ATG13_ENST00000451945.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000524625.1_Splice_Site	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13						autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TGTTTTTGAAGAAACCAGCTT	0.428																																						uc009yld.2																			2	Unknown(2)		lung(2)		0						c.e17-1		autophagy-related protein 13 isoform 1							110.0	110.0	110.0					11																	46690953		2201	4299	6500	SO:0001630	splice_region_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690953G>C	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1348-1G>C	11.37:g.46690953G>C						KIAA0652_uc001nda.2_Splice_Site_p.K483_splice|KIAA0652_uc001ndb.2_Splice_Site_p.K450_splice|KIAA0652_uc001ncz.2_Splice_Site_p.K413_splice|KIAA0652_uc001ndc.2_Splice_Site_p.K413_splice|KIAA0652_uc010rgv.1_Splice_Site_p.K334_splice	p.K450_splice	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	17	2032	+								B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Splice_Site	SNP	ENST00000434074.1	37	c.1348_splice	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763684	0.89932	.	.	ENSG00000175224	ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG13	46647529	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.827000	0.99397	2.689000	0.91719	0.655000	0.94253	.		PASS	0.428	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741	Intron	82	127	82	127	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541774	55541774	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:55541774G>T	ENST00000361760.1	+	1	861	c.861G>T	c.(859-861)ctG>ctT	p.L287L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L287L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTCCAATGCTGAACCCATTGA	0.358																																						uc010ril.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(859-861)CTG>CTT		olfactory receptor, family 5, subfamily D,							76.0	66.0	69.0					11																	55541774		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541774G>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.861G>T	11.37:g.55541774G>T							p.L287L	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	861	+		all_epithelial(135;0.196)	287			Helical; Name=7; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.861G>T	CCDS31507.1																																																																																				PASS	0.358	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		32	47	32	47	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904776	55904776	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:55904776A>C	ENST00000301529.1	-	1	418	c.419T>G	c.(418-420)cTc>cGc	p.L140R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L140R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGGAGGCAGAGCCGCCGAGA	0.468																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(418-420)CTC>CGC		olfactory receptor, family 8, subfamily J,							107.0	103.0	104.0					11																	55904776		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904776A>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.419T>G	11.37:g.55904776A>C	ENSP00000301529:p.Leu140Arg						p.L140R	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	419	-	Esophageal squamous(21;0.00693)		140			Helical; Name=4; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.419T>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713177	0.48517	.	.	ENSG00000167822	ENST00000301529	T	0.00237	8.47	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	1.323970	0.04688	N	0.413674	T	0.00328	0.0010	L	0.55743	1.74	0.09310	N	1	P	0.41978	0.767	P	0.51550	0.673	T	0.50162	-0.8860	10	0.66056	D	0.02	.	5.3892	0.16234	0.7946:0.0:0.2054:0.0	.	140	Q8NGG0	OR8J3_HUMAN	R	140	ENSP00000301529:L140R	ENSP00000301529:L140R	L	-	2	0	OR8J3	55661352	0.068000	0.21057	0.001000	0.08648	0.662000	0.39071	1.935000	0.40173	1.268000	0.44264	0.240000	0.17902	CTC		PASS	0.468	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		44	71	44	71	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83673942	83673942	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:83673942G>T	ENST00000532653.1	-	9	1313	c.1011C>A	c.(1009-1011)gaC>gaA	p.D337E	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.D442E|DLG2_ENST00000398309.2_Missense_Mutation_p.D337E|DLG2_ENST00000330014.6_Missense_Mutation_p.D276E|DLG2_ENST00000531015.1_Missense_Mutation_p.D304E|DLG2_ENST00000398301.2_Missense_Mutation_p.D376E|DLG2_ENST00000524982.1_Missense_Mutation_p.D337E|DLG2_ENST00000280241.8_Missense_Mutation_p.D376E|DLG2_ENST00000418306.2_Missense_Mutation_p.D286E|DLG2_ENST00000537455.1_Missense_Mutation_p.D91E|DLG2_ENST00000543673.1_Missense_Mutation_p.D442E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.D286E(1)|p.D442E(1)|p.D376E(1)|p.D337E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAGTCGTCGTCAACAAGCA	0.423																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1009-1011)GAC>GAA		chapsyn-110 isoform 2							188.0	178.0	181.0					11																	83673942		1928	4144	6072	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83673942G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1011C>A	11.37:g.83673942G>T	ENSP00000435849:p.Asp337Glu					DLG2_uc001pai.2_Missense_Mutation_p.D286E|DLG2_uc010rsy.1_Missense_Mutation_p.D304E|DLG2_uc010rsz.1_Missense_Mutation_p.D337E|DLG2_uc010rta.1_Missense_Mutation_p.D337E|DLG2_uc001pak.2_Missense_Mutation_p.D442E|DLG2_uc010rtb.1_Missense_Mutation_p.D304E|DLG2_uc001pal.1_Missense_Mutation_p.D337E|DLG2_uc001pam.1_Missense_Mutation_p.D376E	p.D337E	NM_001364	NP_001355	Q15700	DLG2_HUMAN			9	1314	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	337					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1011C>A		.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206524	0.06180	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.16324	2.78;2.77;2.56;2.77;2.79;2.69;2.58;2.78;2.73;2.59;2.35	5.55	1.93	0.25924	PDZ-associated domain of NMDA receptors (1);	0.072803	0.52532	N	0.000070	T	0.05777	0.0151	N	0.04018	-0.295	0.80722	D	1	B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.0;0.0;0.004;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.18263	0.01;0.0;0.021;0.001;0.017;0.002;0.004;0.006	T	0.31166	-0.9953	9	.	.	.	.	3.4445	0.07476	0.0:0.3998:0.2637:0.3366	.	304;337;337;276;376;442;337;286	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	337;442;286;442;376;276;91;337;337;442;304;376	ENSP00000381355:D337E;ENSP00000365272:D442E;ENSP00000402275:D286E;ENSP00000441994:D442E;ENSP00000280241:D376E;ENSP00000381353:D276E;ENSP00000443248:D91E;ENSP00000432894:D337E;ENSP00000435849:D337E;ENSP00000433848:D304E;ENSP00000381346:D376E	.	D	-	3	2	DLG2	83351590	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	0.284000	0.18864	0.411000	0.25702	-0.262000	0.10625	GAC		PASS	0.423	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		75	161	75	161	---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110035605	110035605	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:110035605C>A	ENST00000278590.3	+	6	1846	c.1795C>A	c.(1795-1797)Ctg>Atg	p.L599M	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.L568M|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.L600M	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	599							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.L599M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATACTCAAATCTGAGTCTCTC	0.438																																						uc009yxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1795-1797)CTG>ATG		zinc finger CCCH-type containing 12C							64.0	61.0	62.0					11																	110035605		1971	4141	6112	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035605C>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1795C>A	11.37:g.110035605C>A	ENSP00000278590:p.Leu599Met					ZC3H12C_uc010rwc.1_Missense_Mutation_p.L600M|ZC3H12C_uc010rwd.1_Missense_Mutation_p.L600M|ZC3H12C_uc001pkr.3_Missense_Mutation_p.L568M	p.L599M	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	1846	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	599					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1795C>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622489	0.46840	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.49139	0.79;0.79;0.83	5.84	4.92	0.64577	.	0.074956	0.56097	N	0.000037	T	0.64159	0.2573	L	0.52759	1.655	0.38636	D	0.951502	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.996;0.996	T	0.69654	-0.5087	10	0.62326	D	0.03	-10.501	16.4299	0.83839	0.1324:0.8676:0.0:0.0	.	600;599;599	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	M	599;600;568	ENSP00000278590:L599M;ENSP00000431821:L600M;ENSP00000413094:L568M	ENSP00000278590:L599M	L	+	1	2	ZC3H12C	109540815	0.957000	0.32711	1.000000	0.80357	0.960000	0.62799	1.852000	0.39348	1.466000	0.48025	-0.310000	0.09108	CTG		PASS	0.438	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		27	37	27	37	---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661365	116661365	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:116661365A>G	ENST00000227665.4	-	3	614	c.580T>C	c.(580-582)Tac>Cac	p.Y194H	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.Y194H			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	194					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.Y194H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTCTCGGCGTATGGGTGGAAG	0.706																																						uc001ppr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)TAC>CAC		apolipoprotein AV precursor							21.0	25.0	24.0					11																	116661365		2200	4291	6491	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661365A>G	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.580T>C	11.37:g.116661365A>G	ENSP00000227665:p.Tyr194His					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Y194H|APOA5_uc009yzf.2_Missense_Mutation_p.Y194H|APOA5_uc009yzg.2_Missense_Mutation_p.Y220H	p.Y194H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	588	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	194					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.580T>C	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717875	0.68844	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.77358	-1.09;-1.09	4.98	4.98	0.66077	Apolipoprotein/apolipophorin (1);	0.000000	0.51477	D	0.000086	D	0.86879	0.6039	M	0.80982	2.52	0.37832	D	0.928761	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87000	0.2116	10	0.26408	T	0.33	-19.8003	13.0645	0.59025	1.0:0.0:0.0:0.0	.	191;194	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	194	ENSP00000227665:Y194H;ENSP00000445002:Y194H	ENSP00000227665:Y194H	Y	-	1	0	APOA5	116166575	1.000000	0.71417	0.899000	0.35326	0.783000	0.44284	5.716000	0.68437	2.088000	0.63022	0.528000	0.53228	TAC		PASS	0.706	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			6	12	6	12	---	---	---	---
IL10RA	3587	broad.mit.edu	37	11	117863985	117863985	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:117863985G>A	ENST00000227752.3	+	4	517	c.397G>A	c.(397-399)Gag>Aag	p.E133K	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E113K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	133					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E133K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGAACCTAGAGATCCACAA	0.552																																						uc001prv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(397-399)GAG>AAG		interleukin 10 receptor, alpha precursor							90.0	82.0	85.0					11																	117863985		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117863985G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.397G>A	11.37:g.117863985G>A	ENSP00000227752:p.Glu133Lys					IL10RA_uc010rxl.1_Missense_Mutation_p.E113K|IL10RA_uc010rxm.1_Missense_Mutation_p.E113K|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR	p.E133K	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	474	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	133			Extracellular (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.397G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098834	0.37048	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.41400	1.0;1.0	5.43	-1.43	0.08884	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.662250	0.02404	N	0.080960	T	0.26702	0.0653	L	0.46741	1.465	0.18873	N	0.999989	P;B	0.36874	0.572;0.436	B;B	0.25140	0.058;0.048	T	0.10474	-1.0628	10	0.07030	T	0.85	-8.1529	5.0585	0.14546	0.3358:0.2646:0.3996:0.0	.	113;133	F5GYV8;Q13651	.;I10R1_HUMAN	K	133;113;113	ENSP00000227752:E133K;ENSP00000441397:E113K	ENSP00000227752:E133K	E	+	1	0	IL10RA	117369195	0.002000	0.14202	0.000000	0.03702	0.273000	0.26683	0.049000	0.14099	-0.128000	0.11641	0.655000	0.94253	GAG		PASS	0.552	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			35	53	35	53	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252357	124252357	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:124252357C>T	ENST00000375013.2	-	1	901	c.883G>A	c.(883-885)Gat>Aat	p.D295N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D295N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACTTTGACATCCTTGTTCCTC	0.368																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GAT>AAT		olfactory receptor, family 8, subfamily B,							76.0	79.0	78.0					11																	124252357		2201	4298	6499	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252357C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.883G>A	11.37:g.124252357C>T	ENSP00000364152:p.Asp295Asn						p.D295N	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	883	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	295			Cytoplasmic (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.883G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	12.03	1.816261	0.32145	.	.	ENSG00000204293	ENST00000375013	T	0.38077	1.16	3.81	2.89	0.33648	.	0.096119	0.46145	D	0.000318	T	0.44953	0.1318	M	0.90483	3.12	0.22771	N	0.998751	B	0.16603	0.018	B	0.12156	0.007	T	0.50524	-0.8818	10	0.87932	D	0	.	10.6025	0.45375	0.0:0.9021:0.0:0.0979	.	295	Q96RD0	OR8B2_HUMAN	N	295	ENSP00000364152:D295N	ENSP00000364152:D295N	D	-	1	0	OR8B2	123757567	1.000000	0.71417	0.056000	0.19401	0.032000	0.12392	5.265000	0.65519	0.943000	0.37553	-0.424000	0.05967	GAT		PASS	0.368	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		67	128	67	128	---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361113	7361113	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:7361113C>T	ENST00000455147.2	+	14	1822	c.1242C>T	c.(1240-1242)acC>acT	p.T414T	PEX5_ENST00000266564.3_Silent_p.T406T|PEX5_ENST00000434354.2_Silent_p.T429T|PEX5_ENST00000266563.5_Silent_p.T377T|PEX5_ENST00000420616.2_Silent_p.T414T|PEX5_ENST00000412720.2_Silent_p.T435T	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	414					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.T406T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGAGCTTCACCAACGAGTCCC	0.557																																						uc009zfu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)ACC>ACT		peroxisomal biogenesis factor 5 isoform d							63.0	56.0	58.0					12																	7361113		2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7361113C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1242C>T	12.37:g.7361113C>T						PEX5_uc001qsw.2_Silent_p.T414T|PEX5_uc010sgc.1_Silent_p.T429T|PEX5_uc001qsu.2_Silent_p.T377T|PEX5_uc010sgd.1_Silent_p.T435T|PEX5_uc001qsv.2_Silent_p.T406T	p.T414T	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			14	1822	+			414			TPR 3.		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1242C>T	CCDS44823.1																																																																																				PASS	0.557	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		12	61	12	61	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9304846	9304846	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:9304846A>G	ENST00000261336.2	-	32	4210	c.4182T>C	c.(4180-4182)ggT>ggC	p.G1394G	PZP_ENST00000381997.2_Silent_p.G1180G	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1394					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1394G(1)|p.G1180G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGGAATAAAACCAGATACCA	0.358																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4180-4182)GGT>GGC		pregnancy-zone protein precursor							128.0	124.0	125.0					12																	9304846		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9304846A>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4182T>C	12.37:g.9304846A>G						PZP_uc009zgl.2_Silent_p.G1180G	p.G1394G	NM_002864	NP_002855					32	4211	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.4182T>C	CCDS8600.1																																																																																				PASS	0.358	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		52	136	52	136	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20854375	20854375	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:20854375G>T	ENST00000266509.2	+	3	621	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D85Y|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D85Y|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D85Y	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	85					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D85N(2)|p.D85Y(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGGAGTTATTGATGGTAGTTT	0.403																																						uc001rej.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(253-255)GAT>TAT		solute carrier organic anion transporter family,							145.0	129.0	135.0					12																	20854375		2203	4299	6502	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854375G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.253G>T	12.37:g.20854375G>T	ENSP00000266509:p.Asp85Tyr					SLCO1C1_uc010sii.1_Missense_Mutation_p.D85Y|SLCO1C1_uc010sij.1_Missense_Mutation_p.D85Y|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.D85Y|SLCO1C1_uc010sik.1_Intron	p.D85Y	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			4	608	+	Esophageal squamous(101;0.149)		85			Helical; Name=2; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.253G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342019	0.81911	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.74389	2.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.971	D;D;D	0.97110	1.0;0.997;0.93	T	0.74976	-0.3480	10	0.56958	D	0.05	.	19.0207	0.92915	0.0:0.0:1.0:0.0	.	85;85;85	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	Y	85	ENSP00000444149:D85Y;ENSP00000438665:D85Y;ENSP00000266509:D85Y;ENSP00000370964:D85Y	ENSP00000266509:D85Y	D	+	1	0	SLCO1C1	20745642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.729000	0.93468	0.655000	0.94253	GAT		PASS	0.403	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		75	196	75	196	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246297	46246297	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:46246297G>A	ENST00000334344.6	+	15	4563	c.4391G>A	c.(4390-4392)cGc>cAc	p.R1464H	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.R72H|ARID2_ENST00000422737.1_Missense_Mutation_p.R1315H|ARID2_ENST00000444670.1_Missense_Mutation_p.R1074H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1464					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.R1464H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTCAGCAACGCCCAAGTGTA	0.438			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(4390-4392)CGC>CAC		AT rich interactive domain 2 (ARID, RFX-like)							139.0	135.0	136.0					12																	46246297		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246297G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4391G>A	12.37:g.46246297G>A	ENSP00000335044:p.Arg1464His					ARID2_uc001ror.2_Missense_Mutation_p.R1464H|ARID2_uc009zkg.1_Missense_Mutation_p.R920H|ARID2_uc009zkh.1_Missense_Mutation_p.R1091H|ARID2_uc001rou.1_Missense_Mutation_p.R798H	p.R1464H	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4391	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1464					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4391G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738694	0.69304	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.37058	1.22	6.17	6.17	0.99709	.	0.156867	0.64402	D	0.000009	T	0.50394	0.1613	L	0.27053	0.805	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.937;0.909;0.991	T	0.34329	-0.9833	10	0.38643	T	0.18	-4.9252	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1464;1074;1464	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	1464;581;581;1315;1074;72	ENSP00000335044:R1464H	ENSP00000335044:R1464H	R	+	2	0	ARID2	44532564	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.507000	0.66999	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		78	294	78	294	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49416382	49416382	+	Nonsense_Mutation	SNP	G	G	T	rs370674392		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:49416382G>T	ENST00000301067.7	-	51	16328	c.16329C>A	c.(16327-16329)taC>taA	p.Y5443*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5443	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y5173*(1)|p.Y5443*(1)									CCTGCTCTTCGTAGATTTTCT	0.537																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16327-16329)TAC>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							169.0	171.0	171.0					12																	49416382		2010	4180	6190	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416382G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16329C>A	12.37:g.49416382G>T	ENSP00000301067:p.Tyr5443*	HNSCC(34;0.089)					p.Y5443*	NM_003482	NP_003473	O14686	MLL2_HUMAN			51	16329	-			5443			SET.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16329C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	55	24.432327	0.99960	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.06	-1.79	0.07932	.	0.000000	0.32106	N	0.006564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.7121	0.40251	0.613:0.0:0.387:0.0	.	.	.	.	X	5443;124	.	ENSP00000301067:Y5443X	Y	-	3	2	MLL2	47702649	0.787000	0.28750	0.997000	0.53966	0.671000	0.39405	-0.028000	0.12350	-0.170000	0.10816	-0.964000	0.02622	TAC		PASS	0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			119	295	119	295	---	---	---	---
OR9K2	441639	broad.mit.edu	37	12	55523991	55523991	+	Missense_Mutation	SNP	C	C	G	rs149479525	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:55523991C>G	ENST00000305377.5	+	1	527	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R147G(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GGCTTATGACCGCTTTATTGC	0.498																																						uc010spe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(439-441)CGC>GGC		olfactory receptor, family 9, subfamily K,							115.0	111.0	112.0					12																	55523991		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523991C>G	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.439C>G	12.37:g.55523991C>G	ENSP00000307598:p.Arg147Gly						p.R147G	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	439	+			147			Cytoplasmic (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.439C>G	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930238	0.73327	.	.	ENSG00000170605	ENST00000305377	T	0.77620	-1.11	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.126578	0.33572	N	0.004770	D	0.88500	0.6453	M	0.91717	3.235	0.43238	D	0.99514	P	0.50819	0.939	P	0.54346	0.749	D	0.91023	0.4858	10	0.87932	D	0	-12.0836	18.4253	0.90607	0.0:1.0:0.0:0.0	.	147	Q8NGE7	OR9K2_HUMAN	G	147	ENSP00000307598:R147G	ENSP00000307598:R147G	R	+	1	0	OR9K2	53810258	0.544000	0.26441	1.000000	0.80357	0.992000	0.81027	1.054000	0.30455	2.753000	0.94483	0.650000	0.86243	CGC		PASS	0.498	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			54	142	54	142	---	---	---	---
MIP	4284	broad.mit.edu	37	12	56848367	56848367	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:56848367T>C	ENST00000257979.4	-	1	59	c.31A>G	c.(31-33)Agg>Ggg	p.R11G	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	11					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.R11G(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AATATGGCCCTCCAAAAGGAG	0.602																																						uc001slh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(31-33)AGG>GGG		major intrinsic protein of lens fiber							104.0	103.0	103.0					12																	56848367		2203	4300	6503	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848367T>C		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.31A>G	12.37:g.56848367T>C	ENSP00000257979:p.Arg11Gly						p.R11G	NM_012064	NP_036196	P30301	MIP_HUMAN			1	63	-			11			Helical; (By similarity).		Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.31A>G	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019045	0.75275	.	.	ENSG00000135517	ENST00000257979	D	0.87256	-2.23	5.16	5.16	0.70880	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.64630	1.985	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92806	0.6260	10	0.87932	D	0	-12.4705	14.2986	0.66331	0.0:0.0:0.0:1.0	.	11	P30301	MIP_HUMAN	G	11	ENSP00000257979:R11G	ENSP00000257979:R11G	R	-	1	2	MIP	55134634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.466000	0.35310	2.092000	0.63282	0.533000	0.62120	AGG		PASS	0.602	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		3	121	3	121	---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62148664	62148664	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:62148664G>C	ENST00000416284.3	-	3	1832	c.248C>G	c.(247-249)tCa>tGa	p.S83*	FAM19A2_ENST00000550003.1_De_novo_Start_OutOfFrame|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.S83*	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	83						cytoplasm (GO:0005737)		p.S83*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATCCACACATGATGGAGCAGC	0.493																																						uc001sqw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(247-249)TCA>TGA		family with sequence similarity 19 (chemokine							162.0	112.0	129.0					12																	62148664		2203	4300	6503	SO:0001587	stop_gained	338811					cytoplasm		g.chr12:62148664G>C	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.248C>G	12.37:g.62148664G>C	ENSP00000393987:p.Ser83*					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.S83*|FAM19A2_uc001sqy.2_RNA	p.S83*	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1761	-			83					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Nonsense_Mutation	SNP	ENST00000416284.3	37	c.248C>G	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691070	0.68271	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8508	0.92227	0.0:0.0:1.0:0.0	.	.	.	.	X	83;83;84;90;84	.	.	S	-	2	0	FAM19A2	60434931	1.000000	0.71417	0.981000	0.43875	0.353000	0.29299	9.783000	0.99037	2.455000	0.83008	0.558000	0.71614	TCA		PASS	0.493	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		6	109	6	109	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63544086	63544086	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:63544086C>A	ENST00000299178.2	-	1	636	c.531G>T	c.(529-531)ctG>ctT	p.L177L		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	177					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.L177L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCACGAAGCTCAGCACCCAGG	0.642																																						uc001sro.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(529-531)CTG>CTT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						47.0	51.0	49.0					12																	63544086		2202	4299	6501	SO:0001819	synonymous_variant	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544086C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.531G>T	12.37:g.63544086C>A							p.L177L	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2505	-			177			Helical; Name=4; (Potential).			Silent	SNP	ENST00000299178.2	37	c.531G>T	CCDS8965.1																																																																																				PASS	0.642	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			45	106	45	106	---	---	---	---
CNOT2	4848	broad.mit.edu	37	12	70723272	70723272	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:70723272G>A	ENST00000418359.3	+	6	759	c.308G>A	c.(307-309)gGc>gAc	p.G103D	CNOT2_ENST00000229195.3_Missense_Mutation_p.G103D|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	103					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.G103D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TTATCACAAGGCACTCAGTTA	0.458																																						uc001svv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GGC>GAC		CCR4-NOT transcription complex, subunit 2							138.0	119.0	125.0					12																	70723272		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70723272G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.308G>A	12.37:g.70723272G>A	ENSP00000412091:p.Gly103Asp					CNOT2_uc009zro.2_Missense_Mutation_p.G103D|CNOT2_uc009zrp.2_Missense_Mutation_p.G83D|CNOT2_uc009zrq.2_Missense_Mutation_p.G103D	p.G103D	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		5	887	+	Renal(347;0.236)		103					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.308G>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440173	0.63067	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.48522	0.81;0.81;0.83;0.81	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.19112	0.55	0.80722	D	1	P	0.38195	0.622	B	0.30029	0.11	T	0.15378	-1.0439	10	0.39692	T	0.17	-4.7085	17.5881	0.87988	0.0:0.0:1.0:0.0	.	103	Q9NZN8	CNOT2_HUMAN	D	103;103;103;103;83;94;103;103;18;103	ENSP00000229195:G103D;ENSP00000412091:G103D;ENSP00000449659:G94D;ENSP00000449260:G103D	ENSP00000229195:G103D	G	+	2	0	CNOT2	69009539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.586000	0.87340	0.460000	0.39030	GGC		PASS	0.458	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			42	97	42	97	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444795	75444795	+	Silent	SNP	C	C	A	rs201237451		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:75444795C>A	ENST00000549446.1	-	3	1670	c.990G>T	c.(988-990)gtG>gtT	p.V330V	KCNC2_ENST00000298972.1_Silent_p.V330V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000393288.2_Silent_p.V330V|KCNC2_ENST00000341669.3_Silent_p.V330V|KCNC2_ENST00000540018.1_Silent_p.V330V|KCNC2_ENST00000550433.1_Silent_p.V330V|KCNC2_ENST00000548513.1_Silent_p.V330V|KCNC2_ENST00000350228.2_Silent_p.V330V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	330					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V330V(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CACTGAGTCCCACCTCTAAGT	0.428																																						uc001sxg.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(988-990)GTG>GTT		Shaw-related voltage-gated potassium channel							84.0	78.0	80.0					12																	75444795		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444795C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.990G>T	12.37:g.75444795C>A						KCNC2_uc009zry.2_Silent_p.V330V|KCNC2_uc001sxe.2_Silent_p.V330V|KCNC2_uc001sxf.2_Silent_p.V330V|KCNC2_uc010stw.1_Silent_p.V330V	p.V330V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1534	-			330			Helical; Name=Segment S3; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.990G>T	CCDS9007.1																																																																																				PASS	0.428	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		56	122	56	122	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88379738	88379738	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:88379738T>C	ENST00000298699.2	-	11	1195	c.1015A>G	c.(1015-1017)Aga>Gga	p.R339G	C12orf50_ENST00000550553.1_Missense_Mutation_p.R300G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	339								p.R339G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ACAGCATCTCTTTGAACGTGG	0.473																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1015-1017)AGA>GGA		hypothetical protein LOC160419							208.0	199.0	202.0					12																	88379738		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88379738T>C	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1015A>G	12.37:g.88379738T>C	ENSP00000298699:p.Arg339Gly					C12orf50_uc001tan.2_Missense_Mutation_p.R354G	p.R339G	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			11	1183	-			339					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1015A>G	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634495	0.47049	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.41758	0.99;0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.73598	2.24	0.41596	D	0.988823	D;P	0.63046	0.992;0.787	P;P	0.59357	0.856;0.526	T	0.66148	-0.5996	10	0.87932	D	0	.	13.8701	0.63612	0.0:0.0:0.0:1.0	.	354;339	G3V208;Q8NA57	.;CL050_HUMAN	G	339;300;354	ENSP00000298699:R339G;ENSP00000448344:R300G	ENSP00000298699:R339G	R	-	1	2	C12orf50	86903869	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.517000	0.60503	2.263000	0.75096	0.528000	0.53228	AGA		PASS	0.473	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		94	217	94	217	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102046455	102046455	+	Splice_Site	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:102046455G>T	ENST00000550270.1	+	15	1451		c.e15-1		MYBPC1_ENST00000541119.1_Splice_Site|MYBPC1_ENST00000360610.2_Splice_Site|MYBPC1_ENST00000547405.1_Splice_Site|MYBPC1_ENST00000361685.2_Splice_Site|MYBPC1_ENST00000441232.1_Splice_Site|MYBPC1_ENST00000361466.2_Splice_Site|MYBPC1_ENST00000553190.1_Splice_Site|MYBPC1_ENST00000549145.1_Splice_Site|MYBPC1_ENST00000392934.3_Splice_Site|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Splice_Site|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Splice_Site|MYBPC1_ENST00000551300.1_Splice_Site|MYBPC1_ENST00000545503.2_Splice_Site|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Splice_Site			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTTTCCTTAGGATCCACAAG	0.373																																						uc001tii.2																			2	Unknown(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.e15-1		myosin binding protein C, slow type isoform 3							185.0	171.0	176.0					12																	102046455		2203	4300	6503	SO:0001630	splice_region_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102046455G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1452-1G>T	12.37:g.102046455G>T						MYBPC1_uc001tig.2_Splice_Site_p.R509_splice|MYBPC1_uc010svq.1_Splice_Site_p.R471_splice|MYBPC1_uc001tih.2_Splice_Site_p.R509_splice|MYBPC1_uc001tij.2_Splice_Site_p.R484_splice|MYBPC1_uc010svr.1_Splice_Site_p.R484_splice|MYBPC1_uc010svs.1_Splice_Site_p.R484_splice|MYBPC1_uc010svt.1_Splice_Site_p.R472_splice|MYBPC1_uc010svu.1_Splice_Site_p.R465_splice|MYBPC1_uc001tik.2_Splice_Site_p.R458_splice	p.R484_splice	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			15	1554	+								B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Splice_Site	SNP	ENST00000550270.1	37	c.1452_splice	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922814	0.52653	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC1	100570586	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	9.476000	0.97823	2.834000	0.97654	0.655000	0.94253	.		PASS	0.373	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		Intron	67	214	67	214	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102061515	102061515	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:102061515G>T	ENST00000550270.1	+	22	2341	c.2341G>T	c.(2341-2343)Gac>Tac	p.D781Y	MYBPC1_ENST00000541119.1_Missense_Mutation_p.D751Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D781Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D737Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D788Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D781Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D788Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D763Y|MYBPC1_ENST00000549145.1_Missense_Mutation_p.D794Y|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D750Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D749Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D781Y|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D664Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D763Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D744Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	781	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D788Y(1)|p.D781Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTCAGCTGAGGACTGGATAGT	0.383																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2341-2343)GAC>TAC		myosin binding protein C, slow type isoform 3							77.0	73.0	75.0					12																	102061515		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102061515G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2341G>T	12.37:g.102061515G>T	ENSP00000449702:p.Asp781Tyr					MYBPC1_uc001tig.2_Missense_Mutation_p.D788Y|MYBPC1_uc010svq.1_Missense_Mutation_p.D750Y|MYBPC1_uc001tih.2_Missense_Mutation_p.D788Y|MYBPC1_uc001tij.2_Missense_Mutation_p.D763Y|MYBPC1_uc010svr.1_Missense_Mutation_p.D763Y|MYBPC1_uc010svs.1_Missense_Mutation_p.D781Y|MYBPC1_uc010svt.1_Missense_Mutation_p.D751Y|MYBPC1_uc010svu.1_Missense_Mutation_p.D744Y|MYBPC1_uc001tik.2_Missense_Mutation_p.D737Y|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.D781Y	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			22	2443	+			781			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2341G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299484	0.23650	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.29;0.25;0.24;0.25;0.29;0.29;0.29;0.25;0.29;0.29;0.29;0.29;0.29;0.29;0.25	5.92	-1.49	0.08718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.630764	0.14561	N	0.312059	T	0.70631	0.3246	M	0.65677	2.01	0.30933	N	0.726738	B;D;P;D;P;P;P;P;P;P	0.55605	0.371;0.972;0.774;0.972;0.707;0.907;0.938;0.948;0.929;0.938	P;P;P;D;P;P;P;D;P;P	0.68192	0.489;0.882;0.835;0.943;0.713;0.908;0.878;0.956;0.819;0.905	T	0.71826	-0.4475	10	0.87932	D	0	.	13.8203	0.63315	0.3797:0.0:0.6203:0.0	.	744;751;781;763;750;737;763;781;788;788	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	Y	737;781;781;781;750;749;788;794;763;763;744;751;788;664;781	ENSP00000448175:D737Y;ENSP00000400908:D781Y;ENSP00000388989:D781Y;ENSP00000353822:D781Y;ENSP00000376665:D750Y;ENSP00000447362:D749Y;ENSP00000354845:D788Y;ENSP00000447660:D794Y;ENSP00000447900:D763Y;ENSP00000440034:D763Y;ENSP00000446128:D744Y;ENSP00000442847:D751Y;ENSP00000354849:D788Y;ENSP00000447116:D664Y;ENSP00000449702:D781Y	ENSP00000353822:D781Y	D	+	1	0	MYBPC1	100585646	0.128000	0.22383	0.001000	0.08648	0.005000	0.04900	0.430000	0.21428	-0.949000	0.03663	-0.813000	0.03139	GAC		PASS	0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			26	92	26	92	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102559614	102559614	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:102559614T>A	ENST00000358383.5	+	6	819	c.774T>A	c.(772-774)aaT>aaA	p.N258K	PARPBP_ENST00000541394.1_Missense_Mutation_p.N335K|PARPBP_ENST00000392911.2_Missense_Mutation_p.N177K|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Missense_Mutation_p.N144K|PARPBP_ENST00000378128.3_Missense_Mutation_p.N258K|PARPBP_ENST00000327680.2_Missense_Mutation_p.N177K			Q9NWS1	PARI_HUMAN	PARP1 binding protein	258					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.N177K(1)|p.N258K(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						ATTTTATTAATTTCATTGACA	0.308																																						uc001tjf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(772-774)AAT>AAA		hypothetical protein LOC55010							92.0	97.0	96.0					12																	102559614		2203	4299	6502	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559614T>A	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.774T>A	12.37:g.102559614T>A	ENSP00000351153:p.Asn258Lys					C12orf48_uc001tjg.2_Missense_Mutation_p.N177K|C12orf48_uc010swa.1_Missense_Mutation_p.N335K|C12orf48_uc001tjh.2_Missense_Mutation_p.N177K|C12orf48_uc010swb.1_Missense_Mutation_p.N144K|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Missense_Mutation_p.N258K|C12orf48_uc009zud.2_Missense_Mutation_p.N258K	p.N258K	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			6	886	+			258					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.774T>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429902	0.43122	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.95	2.22	0.28083	.	0.407071	0.31358	N	0.007793	T	0.31606	0.0802	L	0.47716	1.5	0.44587	D	0.997554	P;B;B;P;B	0.44627	0.839;0.161;0.161;0.804;0.161	B;B;B;B;B	0.37015	0.239;0.155;0.049;0.225;0.155	T	0.10200	-1.0640	10	0.62326	D	0.03	-11.333	9.4683	0.38826	0.0:0.3565:0.0:0.6435	.	144;335;258;258;258	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	K	258;177;335;144;258;177;225;225	ENSP00000367368:N258K;ENSP00000332915:N177K;ENSP00000440850:N335K;ENSP00000444576:N144K;ENSP00000351153:N258K;ENSP00000376643:N177K;ENSP00000411313:N225K;ENSP00000393867:N225K	ENSP00000332915:N177K	N	+	3	2	C12orf48	101083744	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.442000	0.21628	0.490000	0.27771	0.402000	0.26972	AAT		PASS	0.308	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		55	184	55	184	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104014315	104014315	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:104014315G>C	ENST00000388887.2	+	4	605	c.401G>C	c.(400-402)gGa>gCa	p.G134A		NM_017564.9	NP_060034.9			stabilin 2									p.G134A(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGGAAATGGAACCTGCTCC	0.488																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(400-402)GGA>GCA		stabilin 2 precursor							124.0	101.0	108.0					12																	104014315		2201	4298	6499	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104014315G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.401G>C	12.37:g.104014315G>C	ENSP00000373539:p.Gly134Ala						p.G134A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			4	587	+			134			Extracellular (Potential).|EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.401G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956244	0.73902	.	.	ENSG00000136011	ENST00000388887	D	0.87966	-2.32	4.98	4.98	0.66077	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93939	0.8060	M	0.91354	3.2	0.44055	D	0.996797	D	0.89917	1.0	D	0.91635	0.999	D	0.92798	0.6254	10	0.20519	T	0.43	.	14.1125	0.65132	0.0:0.0:1.0:0.0	.	134	Q8WWQ8	STAB2_HUMAN	A	134	ENSP00000373539:G134A	ENSP00000373539:G134A	G	+	2	0	STAB2	102538445	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.061000	0.64319	2.464000	0.83262	0.549000	0.68633	GGA		PASS	0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	20	5	20	---	---	---	---
HSP90B1	7184	broad.mit.edu	37	12	104341167	104341167	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:104341167G>C	ENST00000299767.5	+	17	2523	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	781					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E781Q(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	cgaagatgaagaaatggatgt	0.428																																						uc001tkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2341-2343)GAA>CAA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						211.0	219.0	216.0					12																	104341167		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104341167G>C	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2341G>C	12.37:g.104341167G>C	ENSP00000299767:p.Glu781Gln					HSP90B1_uc010swg.1_Missense_Mutation_p.E446Q|HSP90B1_uc009zui.1_Missense_Mutation_p.K317N	p.E781Q	NM_003299	NP_003290	P14625	ENPL_HUMAN			17	2446	+			781					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2341G>C	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981899|1.981899	0.34942|0.34942	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.11063|.	2.81|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	3.712080|.	0.00424|.	N|.	0.000060|.	T|T	0.62307|0.62307	0.2417|0.2417	L|L	0.46157|0.46157	1.445|1.445	0.52501|0.52501	D|D	0.999952|0.999952	B|.	0.25169|.	0.119|.	B|.	0.35931|.	0.214|.	T|T	0.58578|0.58578	-0.7612|-0.7612	10|5	0.72032|.	D|.	0.01|.	.|.	15.5492|15.5492	0.76133|0.76133	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	781|.	P14625|.	ENPL_HUMAN|.	Q|N	781;531|131	ENSP00000299767:E781Q|.	ENSP00000299767:E781Q|.	E|K	+|+	1|3	0|2	HSP90B1|HSP90B1	102865297|102865297	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.013000|0.013000	0.08279|0.08279	3.365000|3.365000	0.52335|0.52335	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAA|AAG		PASS	0.428	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		51	115	51	115	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109520716	109520716	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:109520716G>A	ENST00000257548.5	+	11	1110	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	USP30_ENST00000392784.2_Silent_p.R308R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	339	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R330R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTCTGAAGCGGCATGAGCACG	0.532																																						uc010sxi.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1015-1017)CGG>CGA		ubiquitin specific peptidase 30							80.0	64.0	69.0					12																	109520716		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520716G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1017G>A	12.37:g.109520716G>A						USP30_uc001tnu.3_Silent_p.R308R|USP30_uc001tnw.3_Silent_p.R56R	p.R339R	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			11	1121	+			339			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1017G>A	CCDS9123.2																																																																																				PASS	0.532	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		4	85	4	85	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113601994	113601994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:113601994G>A	ENST00000306014.5	-	15	1843	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Nonsense_Mutation_p.Q606*	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	606	Interaction with nuclear receptors.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.Q606*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGCTGTCCCTGCTGGAAGCGG	0.667																																						uc001tup.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1816-1818)CAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							22.0	21.0	21.0					12																	113601994		2199	4297	6496	SO:0001587	stop_gained	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113601994G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1816C>T	12.37:g.113601994G>A	ENSP00000304072:p.Gln606*					DDX54_uc001tuq.3_Nonsense_Mutation_p.Q606*	p.Q606*	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			15	1844	-			606			Interaction with nuclear receptors.		Q86YT8|Q9BRZ1	Nonsense_Mutation	SNP	ENST00000306014.5	37	c.1816C>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326385	0.81690	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	0.235	0.235	0.15431	.	0.258659	0.35040	N	0.003486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	.	.	.	.	.	.	.	X	606	.	ENSP00000304072:Q606X	Q	-	1	0	DDX54	112086377	1.000000	0.71417	0.969000	0.41365	0.089000	0.18198	3.260000	0.51523	0.308000	0.22923	0.313000	0.20887	CAG		PASS	0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		5	6	5	6	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122413512	122413512	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:122413512G>C	ENST00000288912.4	+	19	3781	c.2927G>C	c.(2926-2928)aGa>aCa	p.R976T		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	976							calcium ion binding (GO:0005509)	p.R976T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGGAGACCAGAAAGGTGTCA	0.438																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2926-2928)AGA>ACA		WD repeat domain 66							122.0	112.0	115.0					12																	122413512		1933	4136	6069	SO:0001583	missense	144406						calcium ion binding	g.chr12:122413512G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2927G>C	12.37:g.122413512G>C	ENSP00000288912:p.Arg976Thr						p.R976T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	19	3069	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		976					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2927G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774941	0.49786	.	.	ENSG00000158023	ENST00000288912	T	0.12672	2.66	5.05	5.05	0.67936	.	0.061034	0.64402	D	0.000009	T	0.45478	0.1344	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.56123	-0.8031	10	0.72032	D	0.01	.	18.4137	0.90561	0.0:0.0:1.0:0.0	.	976	Q8TBY9	WDR66_HUMAN	T	976	ENSP00000288912:R976T	ENSP00000288912:R976T	R	+	2	0	WDR66	120897895	1.000000	0.71417	0.094000	0.20943	0.099000	0.18886	8.132000	0.89603	2.341000	0.79615	0.561000	0.74099	AGA		PASS	0.438	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		50	97	50	97	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	125834677	125834677	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:125834677G>T	ENST00000299308.3	+	2	740	c.732G>T	c.(730-732)tcG>tcT	p.S244S		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	244						integral component of membrane (GO:0016021)		p.S244S(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATATCCACTCGGGCCTGGAGA	0.592																																						uc001uhe.1																			2	Substitution - coding silent(2)		lung(2)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(730-732)TCG>TCT		transmembrane protein 132B							69.0	72.0	71.0					12																	125834677		1932	4128	6060	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:125834677G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.732G>T	12.37:g.125834677G>T							p.S244S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	740	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		244			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.732G>T	CCDS41859.1																																																																																				PASS	0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		51	91	51	91	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558880	129558880	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:129558880T>C	ENST00000422113.2	-	9	3166	c.2840A>G	c.(2839-2841)cAc>cGc	p.H947R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H485R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	947					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.H947R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACCTGTTTGTGTCTGTATTT	0.443																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2839-2841)CAC>CGC		transmembrane protein 132D precursor							119.0	107.0	111.0					12																	129558880		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558880T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2840A>G	12.37:g.129558880T>C	ENSP00000408581:p.His947Arg					TMEM132D_uc001uia.2_Missense_Mutation_p.H485R	p.H947R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3168	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	947			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2840A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020671	0.35606	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10288	2.89;3.68	4.14	2.98	0.34508	.	0.171432	0.39407	N	0.001376	T	0.11965	0.0291	M	0.63428	1.95	0.46927	D	0.999253	B;B	0.14805	0.005;0.011	B;B	0.19391	0.025;0.022	T	0.06954	-1.0798	9	.	.	.	-26.2356	9.4536	0.38741	0.0:0.0866:0.0:0.9133	.	947;485	Q14C87;Q14C87-2	T132D_HUMAN;.	R	485;947	ENSP00000374092:H485R;ENSP00000408581:H947R	.	H	-	2	0	TMEM132D	128124833	1.000000	0.71417	0.991000	0.47740	0.730000	0.41778	4.011000	0.57124	0.565000	0.29255	0.338000	0.21704	CAC		PASS	0.443	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		76	179	76	179	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559570	129559570	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr12:129559570T>C	ENST00000422113.2	-	9	2476	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D255G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	717					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D717G(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GACTGAGCCATCACTGAACTG	0.458																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2149-2151)GAT>GGT		transmembrane protein 132D precursor							53.0	49.0	50.0					12																	129559570		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559570T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2150A>G	12.37:g.129559570T>C	ENSP00000408581:p.Asp717Gly					TMEM132D_uc001uia.2_Missense_Mutation_p.D255G	p.D717G	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2478	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	717			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2150A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182130	0.78677	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.28069	1.63;1.63	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70905	-0.4745	9	.	.	.	-31.0277	13.9729	0.64252	0.0:0.0:0.0:1.0	.	717;255	Q14C87;Q14C87-2	T132D_HUMAN;.	G	255;717	ENSP00000374092:D255G;ENSP00000408581:D717G	.	D	-	2	0	TMEM132D	128125523	1.000000	0.71417	0.710000	0.30468	0.893000	0.52053	7.753000	0.85153	1.755000	0.51935	0.460000	0.39030	GAT		PASS	0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		40	104	40	104	---	---	---	---
SHISA2	387914	broad.mit.edu	37	13	26621149	26621149	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:26621149G>C	ENST00000319420.3	-	2	445	c.390C>G	c.(388-390)atC>atG	p.I130M		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	130					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I130M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGGACCCCAAGATGATAAAGG	0.547																																						uc001uqm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(388-390)ATC>ATG		shisa homolog 2 precursor							69.0	60.0	63.0					13																	26621149		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621149G>C		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.390C>G	13.37:g.26621149G>C	ENSP00000313079:p.Ile130Met						p.I130M	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			2	475	-			130			Helical; (Potential).		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.390C>G	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413830	0.62511	.	.	ENSG00000180730	ENST00000319420	T	0.58940	0.3	4.72	3.81	0.43845	.	0.131041	0.52532	D	0.000064	T	0.60573	0.2279	L	0.43923	1.385	0.47065	D	0.999303	B	0.33044	0.395	P	0.46208	0.507	T	0.66312	-0.5955	10	0.72032	D	0.01	-28.2187	13.5938	0.61978	0.0:0.0:0.844:0.156	.	130	Q6UWI4	SHSA2_HUMAN	M	130	ENSP00000313079:I130M	ENSP00000313079:I130M	I	-	3	3	SHISA2	25519149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.164000	0.58190	2.173000	0.68751	0.557000	0.71058	ATC		PASS	0.547	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		21	28	21	28	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911360	32911360	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:32911360A>G	ENST00000380152.3	+	11	3101	c.2868A>G	c.(2866-2868)aaA>aaG	p.K956K	BRCA2_ENST00000544455.1_Silent_p.K956K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	956	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.K956K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGGAGAACAAAAATAGTGTAA	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - coding silent(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(2866-2868)AAA>AAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							48.0	52.0	51.0					13																	32911360		2203	4298	6501	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911360A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2868A>G	13.37:g.32911360A>G		TCGA Ovarian(8;0.087)					p.K956K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3095	+		Lung SC(185;0.0262)	956			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.2868A>G	CCDS9344.1																																																																																				PASS	0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	119	3	119	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42877380	42877380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:42877380G>T	ENST00000025301.2	+	8	4673	c.4498G>T	c.(4498-4500)Gag>Tag	p.E1500*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1500					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.E1500*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAAGATAATGAGTGTCACGT	0.403																																						uc001uys.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4498-4500)GAG>TAG		A-kinase anchor protein 11							134.0	129.0	131.0					13																	42877380		2203	4300	6503	SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877380G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4498G>T	13.37:g.42877380G>T	ENSP00000025301:p.Glu1500*						p.E1500*	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4673	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1500					O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	37	c.4498G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	38	7.111144	0.98070	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.99	2.13	0.27403	.	0.631743	0.16374	N	0.217198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.7659	0.18227	0.2934:0.1267:0.5799:0.0	.	.	.	.	X	1500	.	ENSP00000025301:E1500X	E	+	1	0	AKAP11	41775380	0.414000	0.25408	0.000000	0.03702	0.000000	0.00434	3.246000	0.51414	0.073000	0.16731	-0.947000	0.02670	GAG		PASS	0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		82	130	82	130	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95095744	95095744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:95095744C>A	ENST00000377028.5	-	7	1740	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E476*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	443					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.E476*(1)|p.E443*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAAAAGAGTTCTTCATTAGTC	0.453																																						uc001vlv.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1327-1329)GAA>TAA		dopachrome tautomerase isoform 1							130.0	121.0	124.0					13																	95095744		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95095744C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1327G>T	13.37:g.95095744C>A	ENSP00000366227:p.Glu443*					DCT_uc010afh.2_Nonsense_Mutation_p.E476*	p.E443*	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	7	1754	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	443			Lumenal, melanosome (Potential).		Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.1327G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	38	7.211635	0.98139	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	.	.	.	5.86	5.86	0.93980	.	0.101749	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-22.6771	17.1408	0.86752	0.0:0.874:0.126:0.0	.	.	.	.	X	50;443;476	.	ENSP00000366220:E50X	E	-	1	0	DCT	93893745	0.997000	0.39634	0.992000	0.48379	0.189000	0.23516	3.295000	0.51794	2.774000	0.95407	0.650000	0.86243	GAA		PASS	0.453	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			34	48	34	48	---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107220071	107220071	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:107220071G>A	ENST00000400198.3	-	1	441	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	66	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S66F(1)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTCGCGCCGGGACACGGCCGT	0.697																																						uc001vqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)TCC>TTC		arginine and glutamate rich 1							17.0	18.0	18.0					13																	107220071		1853	4058	5911	SO:0001583	missense	55082							g.chr13:107220071G>A	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.197C>T	13.37:g.107220071G>A	ENSP00000383059:p.Ser66Phe						p.S66F	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN			1	444	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		66			Arg-rich.		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	ENST00000400198.3	37	c.197C>T	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154033	0.57259	.	.	ENSG00000134884	ENST00000400198	T	0.28454	1.61	3.89	3.89	0.44902	.	0.549097	0.18879	N	0.128616	T	0.21590	0.0520	L	0.29908	0.895	0.80722	D	1	B	0.20164	0.042	B	0.17433	0.018	T	0.06862	-1.0803	10	0.54805	T	0.06	-3.0713	8.4631	0.32940	0.0902:0.157:0.7528:0.0	.	66	Q9NWB6	ARGL1_HUMAN	F	66	ENSP00000383059:S66F	ENSP00000383059:S66F	S	-	2	0	ARGLU1	106018072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.256000	0.72473	1.997000	0.58415	0.462000	0.41574	TCC		PASS	0.697	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		15	13	15	13	---	---	---	---
ABHD13	84945	broad.mit.edu	37	13	108882380	108882380	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:108882380C>T	ENST00000375898.3	+	2	1115	c.814C>T	c.(814-816)Cca>Tca	p.P272S		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	272						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P272S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCAATTAATTCCACCAGTAAT	0.388																																					Pancreas(22;506 789 38166 45896 51596)	uc001vqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(814-816)CCA>TCA		abhydrolase domain containing 13							96.0	97.0	97.0					13																	108882380		2203	4299	6502	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108882380C>T	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.814C>T	13.37:g.108882380C>T	ENSP00000365063:p.Pro272Ser						p.P272S	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN			2	1079	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		272					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.814C>T	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095782	0.76870	.	.	ENSG00000139826	ENST00000375898	T	0.58210	0.35	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	M	0.85099	2.735	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78957	-0.1999	10	0.66056	D	0.02	-15.1939	19.5254	0.95203	0.0:1.0:0.0:0.0	.	272	Q7L211	ABHDD_HUMAN	S	272	ENSP00000365063:P272S	ENSP00000365063:P272S	P	+	1	0	ABHD13	107680381	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.724000	0.84798	2.857000	0.98124	0.650000	0.86243	CCA		PASS	0.388	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		14	178	14	178	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115091304	115091304	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr13:115091304A>G	ENST00000361283.1	+	3	2296	c.1987A>G	c.(1987-1989)Att>Gtt	p.I663V		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	663	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.I663V(1)									TGTGGAATCCATTGATTTTAG	0.383																																						uc010ahb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1987-1989)ATT>GTT		zinc finger protein 828							92.0	94.0	93.0					13																	115091304		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091304A>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1987A>G	13.37:g.115091304A>G	ENSP00000354730:p.Ile663Val					ZNF828_uc001vuv.2_Missense_Mutation_p.I663V|ZNF828_uc010tko.1_Missense_Mutation_p.I663V	p.I663V	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	2316	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	663			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1987A>G	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	a	0.093	-1.163580	0.01673	.	.	ENSG00000198824	ENST00000361283	T	0.01145	5.27	5.81	-7.22	0.01485	.	1.278460	0.05213	N	0.507100	T	0.00552	0.0018	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.49476	-0.8936	9	.	.	.	-0.483	3.7724	0.08647	0.1433:0.371:0.3527:0.133	.	663	Q96JM3	ZN828_HUMAN	V	663	ENSP00000354730:I663V	.	I	+	1	0	ZNF828	114109406	0.000000	0.05858	0.066000	0.19879	0.881000	0.50899	-0.802000	0.04545	-1.201000	0.02659	0.533000	0.62120	ATT		PASS	0.383	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		32	54	32	54	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20344457	20344457	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:20344457G>A	ENST00000298642.2	+	1	67	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E11K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACCATGTCTGAATTTGTTTT	0.373																																						uc001vwh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(31-33)GAA>AAA		olfactory receptor, family 4, subfamily K,							171.0	187.0	182.0					14																	20344457		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344457G>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.31G>A	14.37:g.20344457G>A	ENSP00000298642:p.Glu11Lys						p.E11K	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	31	+	all_cancers(95;0.00108)		11			Extracellular (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.31G>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	12.35	1.910428	0.33721	.	.	ENSG00000165762	ENST00000298642	T	0.01119	5.31	5.16	5.16	0.70880	.	0.153219	0.30269	N	0.010014	T	0.02688	0.0081	M	0.83603	2.65	0.32125	N	0.587497	B	0.29432	0.244	B	0.31245	0.126	T	0.00451	-1.1731	10	0.72032	D	0.01	.	9.5392	0.39242	0.0931:0.0:0.9069:0.0	.	11	Q8NGD2	OR4K2_HUMAN	K	11	ENSP00000298642:E11K	ENSP00000298642:E11K	E	+	1	0	OR4K2	19414297	0.987000	0.35691	0.994000	0.49952	0.334000	0.28698	2.815000	0.48018	2.692000	0.91855	0.655000	0.94253	GAA		PASS	0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			8	303	8	303	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20443871	20443871	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:20443871G>T	ENST00000305051.5	+	1	269	c.194G>T	c.(193-195)gGc>gTc	p.G65V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G65V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTGTTGGGCAACTTTCTC	0.448																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)GGC>GTC		olfactory receptor, family 4, subfamily K,							100.0	116.0	110.0					14																	20443871		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443871G>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.194G>T	14.37:g.20443871G>T	ENSP00000304077:p.Gly65Val						p.G65V	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	194	+	all_cancers(95;0.00108)		65			Helical; Name=1; (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.194G>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.070626	0.36566	.	.	ENSG00000169488	ENST00000305051	T	0.04406	3.63	3.55	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000135	T	0.29491	0.0735	H	0.97291	3.975	0.27320	N	0.957061	D	0.89917	1.0	D	0.72625	0.978	T	0.29274	-1.0017	10	0.87932	D	0	.	8.5668	0.33545	0.1187:0.0:0.8813:0.0	.	65	Q8NH41	OR4KF_HUMAN	V	65	ENSP00000304077:G65V	ENSP00000304077:G65V	G	+	2	0	OR4K15	19513711	0.217000	0.23597	0.753000	0.31225	0.814000	0.46013	1.503000	0.35715	0.690000	0.31570	0.467000	0.42956	GGC		PASS	0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			96	164	96	164	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483304	20483304	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:20483304G>C	ENST00000305045.2	-	1	48	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAAGTGCAGAGTCCATGCAAC	0.368																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(49-51)CTC>GTC		olfactory receptor, family 4, subfamily K,							48.0	50.0	49.0					14																	20483304		2198	4298	6496	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483304G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.49C>G	14.37:g.20483304G>C	ENSP00000305011:p.Leu17Val						p.L17V	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	49	-	all_cancers(95;0.00108)		17			Extracellular (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.49C>G	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.76	1.442378	0.25987	.	.	ENSG00000169484	ENST00000305045	T	0.00335	8.06	4.15	4.15	0.48705	.	0.000000	0.34338	N	0.004046	T	0.00524	0.0017	M	0.87381	2.88	0.09310	N	0.999995	D	0.54964	0.969	P	0.48770	0.589	T	0.38520	-0.9657	10	0.87932	D	0	.	9.7803	0.40645	0.1016:0.0:0.8983:0.0	.	17	Q8NGD5	OR4KE_HUMAN	V	17	ENSP00000305011:L17V	ENSP00000305011:L17V	L	-	1	0	OR4K14	19553144	0.749000	0.28305	0.988000	0.46212	0.166000	0.22503	1.525000	0.35953	2.131000	0.65755	0.603000	0.83216	CTC		PASS	0.368	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			3	95	3	95	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174751	63174751	+	Silent	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:63174751G>C	ENST00000322893.7	-	11	2710	c.2442C>G	c.(2440-2442)ctC>ctG	p.L814L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	814					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L814L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TATTATTCTTGAGTCGCAGCC	0.468																																						uc001xfx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2440-2442)CTC>CTG		potassium voltage-gated channel, subfamily H,							126.0	127.0	127.0					14																	63174751		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174751G>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2442C>G	14.37:g.63174751G>C						KCNH5_uc001xfy.2_3'UTR	p.L814L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2493	-			814			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2442C>G	CCDS9756.1																																																																																				PASS	0.468	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		9	234	9	234	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93118824	93118824	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:93118824C>T	ENST00000216487.7	+	6	1589	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	477	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P477L(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCCCAGCTCCCTTAGAGAAC	0.632																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1429-1431)CCC>CTC		Ras and Rab interactor 3							81.0	101.0	94.0					14																	93118824		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118824C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1430C>T	14.37:g.93118824C>T	ENSP00000216487:p.Pro477Leu					RIN3_uc010auk.2_Missense_Mutation_p.P139L|RIN3_uc001yaq.2_Missense_Mutation_p.P402L|RIN3_uc001yar.1_Missense_Mutation_p.P139L|RIN3_uc001yas.1_Missense_Mutation_p.P139L	p.P477L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	1582	+		all_cancers(154;0.0701)	477			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1430C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497758	0.64186	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06218	3.33	4.49	2.34	0.29019	.	1.517170	0.03983	N	0.293710	T	0.18299	0.0439	L	0.60455	1.87	0.19300	N	0.999972	D;B;B;D	0.60575	0.988;0.07;0.031;0.979	P;B;B;P	0.58721	0.844;0.014;0.01;0.702	T	0.12451	-1.0547	10	0.59425	D	0.04	-11.3415	8.0391	0.30511	0.315:0.5732:0.1118:0.0	.	477;523;402;477	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	L	477;401	ENSP00000216487:P477L	ENSP00000216487:P477L	P	+	2	0	RIN3	92188577	0.028000	0.19301	0.055000	0.19348	0.350000	0.29205	1.291000	0.33330	0.873000	0.35799	0.491000	0.48974	CCC		PASS	0.632	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			45	81	45	81	---	---	---	---
IGHV6-1	28385	broad.mit.edu	37	14	106405633	106405633	+	RNA	SNP	G	G	A	rs373934455	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr14:106405633G>A	ENST00000390593.2	-	0	392									immunoglobulin heavy variable 6-1																		ATACACAGCCGTGTCCTCGGG	0.517																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							148.0	151.0	150.0					14																	106405633		2060	4207	6267			8755							g.chr14:106405633G>A	X92224		14q32.33	2012-02-08			ENSG00000211933	ENSG00000211933		"""Immunoglobulins / IGH locus"""	5662	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152324		14.37:g.106405633G>A														2358		-									RNA	SNP	ENST00000390593.2	37	c.42431C>T																																																																																					PASS	0.517	IGHV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325886.1	NG_001019		79	69	79	69	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31197396	31197396	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:31197396C>T	ENST00000362065.4	+	2	821	c.530C>T	c.(529-531)gCc>gTc	p.A177V	FAN1_ENST00000561607.1_Missense_Mutation_p.A177V|FAN1_ENST00000565466.1_Missense_Mutation_p.A177V|FAN1_ENST00000561594.1_Missense_Mutation_p.A177V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	177					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.A177V(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GAAGAATTTGCCGGTTCTAGT	0.373								Direct reversal of damage																														uc001zff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GCC>GTC	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							45.0	47.0	46.0					15																	31197396		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197396C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.530C>T	15.37:g.31197396C>T	ENSP00000354497:p.Ala177Val					MTMR15_uc001zfc.3_Missense_Mutation_p.A177V|MTMR15_uc010azw.2_Missense_Mutation_p.A177V|MTMR15_uc001zfd.3_Missense_Mutation_p.A177V|MTMR15_uc001zfe.2_5'UTR	p.A177V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	821	+		all_lung(180;2.23e-09)	177					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.530C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133588	0.37630	.	.	ENSG00000198690	ENST00000362065	T	0.81330	-1.48	5.46	-2.63	0.06133	.	1.296200	0.05101	N	0.487206	T	0.73305	0.3570	M	0.67953	2.075	0.09310	N	1	P;B	0.35077	0.483;0.418	B;B	0.33960	0.084;0.173	T	0.55010	-0.8207	10	0.19590	T	0.45	0.0631	4.38	0.11290	0.0881:0.3748:0.3419:0.1952	.	177;177	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	V	177	ENSP00000354497:A177V	ENSP00000354497:A177V	A	+	2	0	FAN1	28984688	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-0.406000	0.07187	-0.435000	0.07264	-0.258000	0.10820	GCC		PASS	0.373	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		5	129	5	129	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33858998	33858998	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:33858998C>A	ENST00000389232.4	+	12	1336	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	RYR3_ENST00000415757.3_Silent_p.V422V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	422					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V422V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAGTTTGTCAGGTATGTTA	0.507																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1264-1266)GTC>GTA		ryanodine receptor 3							184.0	186.0	185.0					15																	33858998		2097	4216	6313	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33858998C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1266C>A	15.37:g.33858998C>A						RYR3_uc010bar.2_Silent_p.V422V	p.V422V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	12	1336	+		all_lung(180;7.18e-09)	422			Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1266C>A	CCDS45210.1																																																																																				PASS	0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			49	122	49	122	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34018666	34018666	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:34018666G>T	ENST00000389232.4	+	46	7062	c.6992G>T	c.(6991-6993)gGg>gTg	p.G2331V	RYR3_ENST00000415757.3_Missense_Mutation_p.G2331V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2331	4 X approximate repeats.|Interaction with FKBP1A.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G2331V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCTGGTTGGGATCATCAGC	0.587																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6991-6993)GGG>GTG		ryanodine receptor 3							44.0	48.0	47.0					15																	34018666		2031	4179	6210	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34018666G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6992G>T	15.37:g.34018666G>T	ENSP00000373884:p.Gly2331Val					RYR3_uc010bar.2_Missense_Mutation_p.G2331V	p.G2331V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	46	7062	+		all_lung(180;7.18e-09)	2331			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6992G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665980	0.88251	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98937	-5.25;-5.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99577	1.0972	10	0.87932	D	0	.	18.8585	0.92264	0.0:0.0:1.0:0.0	.	2331;2331	Q15413-2;Q15413	.;RYR3_HUMAN	V	2331	ENSP00000373884:G2331V;ENSP00000399610:G2331V	ENSP00000354735:G2331V	G	+	2	0	RYR3	31805958	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	9.601000	0.98297	2.764000	0.94973	0.558000	0.71614	GGG		PASS	0.587	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	16	10	16	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34130643	34130643	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:34130643C>T	ENST00000389232.4	+	89	12532	c.12462C>T	c.(12460-12462)acC>acT	p.T4154T	RYR3_ENST00000415757.3_Silent_p.T4149T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T4153T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATGTCACCGACTTCCTGA	0.507																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12460-12462)ACC>ACT		ryanodine receptor 3							98.0	101.0	100.0					15																	34130643		1929	4121	6050	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130643C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12462C>T	15.37:g.34130643C>T						RYR3_uc010bar.2_Silent_p.T4149T	p.T4154T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12532	+		all_lung(180;7.18e-09)	4154					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.12462C>T	CCDS45210.1																																																																																				PASS	0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	142	7	142	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42172460	42172460	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:42172460A>C	ENST00000320955.6	-	14	2936	c.2709T>G	c.(2707-2709)agT>agG	p.S903R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	903					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.S903R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCCACAGGAACTGCAGAAAC	0.647																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2602-2604)AGT>AGG		spectrin, beta, non-erythrocytic 5							24.0	29.0	27.0					15																	42172460		1947	4136	6083	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42172460A>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2709T>G	15.37:g.42172460A>C	ENSP00000317790:p.Ser903Arg						p.S868R	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	14	2937	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	903			Spectrin 7.			Missense_Mutation	SNP	ENST00000320955.6	37	c.2604T>G		.	.	.	.	.	.	.	.	.	.	.	13.01	2.109771	0.37242	.	.	ENSG00000137877	ENST00000320955	T	0.44881	0.91	4.23	1.23	0.21249	.	0.517309	0.19250	N	0.118950	T	0.44787	0.1310	L	0.48642	1.525	0.19575	N	0.999962	D	0.54397	0.966	P	0.55303	0.773	T	0.29088	-1.0023	10	0.56958	D	0.05	.	7.4481	0.27223	0.3668:0.0:0.6332:0.0	.	903	Q9NRC6	SPTN5_HUMAN	R	903	ENSP00000317790:S903R	ENSP00000317790:S903R	S	-	3	2	SPTBN5	39959752	1.000000	0.71417	0.117000	0.21633	0.018000	0.09664	0.805000	0.27112	0.034000	0.15491	-0.415000	0.06103	AGT		PASS	0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	9	3	9	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42434795	42434795	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:42434795C>T	ENST00000382396.4	-	19	2346	c.2260G>A	c.(2260-2262)Gac>Aac	p.D754N	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.D756N			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	754	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.D754N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGCGGGGGTCCTCAGCCTTG	0.627																																						uc001zoz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2260-2262)GAC>AAC		phospholipase A2, group IVF							76.0	70.0	72.0					15																	42434795		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434795C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2260G>A	15.37:g.42434795C>T	ENSP00000371833:p.Asp754Asn					PLA2G4F_uc010bcq.2_Missense_Mutation_p.D51N|PLA2G4F_uc001zoy.2_Missense_Mutation_p.D386N|PLA2G4F_uc010bcr.2_Missense_Mutation_p.D505N|PLA2G4F_uc001zpa.2_Missense_Mutation_p.D505N|PLA2G4F_uc010bcs.2_Missense_Mutation_p.D541N	p.D754N	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	19	2323	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	754			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2260G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834717	0.16820	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04156	3.69;3.69	4.88	4.88	0.63580	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.076531	0.53938	D	0.000052	T	0.02230	0.0069	N	0.12182	0.205	0.39065	D	0.960608	B;B;B	0.24963	0.06;0.023;0.115	B;B;B	0.22880	0.017;0.042;0.031	T	0.39663	-0.9603	10	0.02654	T	1	-36.8087	6.4725	0.22015	0.0:0.7845:0.0:0.2155	.	541;756;754	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	N	750;756;754;754	ENSP00000380442:D756N;ENSP00000371833:D754N	ENSP00000290497:D750N	D	-	1	0	PLA2G4F	40222087	0.473000	0.25878	0.961000	0.40146	0.310000	0.27922	0.822000	0.27352	2.722000	0.93159	0.655000	0.94253	GAC		PASS	0.627	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		40	89	40	89	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54006673	54006673	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:54006673C>A	ENST00000396328.1	-	6	788	c.549G>T	c.(547-549)gaG>gaT	p.E183D	WDR72_ENST00000557913.1_Missense_Mutation_p.E182D|WDR72_ENST00000360509.5_Missense_Mutation_p.E183D|WDR72_ENST00000559418.1_Missense_Mutation_p.E183D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	183				E -> G (in Ref. 1; CAD97880). {ECO:0000305}.				p.E183D(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATACTTTGAGCTCACCAGCTA	0.348																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(547-549)GAG>GAT		WD repeat domain 72							94.0	92.0	93.0					15																	54006673		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54006673C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.549G>T	15.37:g.54006673C>A	ENSP00000379619:p.Glu183Asp					WDR72_uc010bfi.1_Missense_Mutation_p.E183D	p.E183D	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	6	591	-			183	E -> G (in Ref. 1; CAD97880).		WD 3.		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.549G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244520	0.22796	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.43294	0.95;0.95	5.87	-9.48	0.00591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.310366	0.30338	N	0.009850	T	0.12347	0.0300	N	0.08118	0	0.22389	N	0.999145	B	0.06786	0.001	B	0.04013	0.001	T	0.07271	-1.0781	10	0.23302	T	0.38	.	3.8316	0.08876	0.2455:0.1419:0.0755:0.537	.	183	Q3MJ13	WDR72_HUMAN	D	183	ENSP00000379619:E183D;ENSP00000353699:E183D	ENSP00000353699:E183D	E	-	3	2	WDR72	51793965	0.003000	0.15002	0.525000	0.27900	0.990000	0.78478	-0.530000	0.06179	-1.418000	0.02014	-0.136000	0.14681	GAG		PASS	0.348	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		31	45	31	45	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66853529	66853529	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:66853529G>T	ENST00000341509.5	-	5	736	c.605C>A	c.(604-606)cCt>cAt	p.P202H	LCTL_ENST00000537670.1_Missense_Mutation_p.P29H|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	202					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.P202H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTTACCCGAGGATCACTGAA	0.552																																						uc002aqc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)CCT>CAT		lactase-like precursor							117.0	100.0	105.0					15																	66853529		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66853529G>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.605C>A	15.37:g.66853529G>T	ENSP00000343490:p.Pro202His					LCTL_uc002aqd.3_Missense_Mutation_p.P29H|LCTL_uc010bhw.2_5'UTR	p.P202H	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			5	737	-			202			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.605C>A	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264666	0.80358	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.59364	0.27;1.07	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049779	0.85682	D	0.000000	D	0.83801	0.5333	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88923	0.3367	10	0.87932	D	0	-18.7999	15.4441	0.75216	0.0:0.1389:0.8611:0.0	.	202	Q6UWM7	LCTL_HUMAN	H	29;202	ENSP00000445419:P29H;ENSP00000343490:P202H	ENSP00000343490:P202H	P	-	2	0	LCTL	64640583	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.808000	0.69165	2.629000	0.89072	0.655000	0.94253	CCT		PASS	0.552	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		4	148	4	148	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76222290	76222290	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:76222290G>A	ENST00000308275.3	+	6	799	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	FBXO22_ENST00000540507.1_Missense_Mutation_p.A128T|FBXO22_ENST00000453211.2_Missense_Mutation_p.A232T	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	232					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.A232T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAAGGTGGGAGCCAGTAATTA	0.433																																						uc002bbk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(694-696)GCC>ACC		F-box only protein 22 isoform a							205.0	180.0	188.0					15																	76222290		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76222290G>A	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.694G>A	15.37:g.76222290G>A	ENSP00000307833:p.Ala232Thr					FBXO22_uc002bbj.1_Missense_Mutation_p.A232T|FBXO22_uc002bbl.2_Missense_Mutation_p.A128T	p.A232T	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			6	799	+			232					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.694G>A	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585019	0.86748	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	4.85	4.85	0.62838	.	0.188394	0.46442	D	0.000288	T	0.64538	0.2607	N	0.24115	0.695	0.45295	D	0.998295	D;D	0.76494	0.979;0.999	P;D	0.72075	0.702;0.976	T	0.69355	-0.5167	9	0.72032	D	0.01	-21.3999	17.1295	0.86723	0.0:0.0:1.0:0.0	.	232;232	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	T	232;232;128	.	ENSP00000307833:A232T	A	+	1	0	FBXO22	74009345	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.428000	0.66489	2.531000	0.85337	0.563000	0.77884	GCC		PASS	0.433	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		98	222	98	222	---	---	---	---
TBC1D2B	23102	broad.mit.edu	37	15	78293997	78293997	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:78293997T>C	ENST00000300584.3	-	12	2659	c.2660A>G	c.(2659-2661)tAt>tGt	p.Y887C	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.Y887C|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	887							Rab GTPase activator activity (GO:0005097)	p.Y887C(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGCGGAGATACTTAAATAT	0.443																																						uc002bcy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2659-2661)TAT>TGT		TBC1 domain family, member 2B isoform a							64.0	58.0	60.0					15																	78293997		2195	4290	6485	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78293997T>C	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2660A>G	15.37:g.78293997T>C	ENSP00000300584:p.Tyr887Cys					TBC1D2B_uc010bla.2_Missense_Mutation_p.Y887C	p.Y887C	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			12	2660	-			887					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2660A>G	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.03|13.03	2.114090|2.114090	0.37339|0.37339	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.24151	.|1.87;1.87	5.61|5.61	4.28|4.28	0.50868|0.50868	.|Rab-GAP/TBC domain (1);	.|0.057002	.|0.64402	.|D	.|0.000001	T|T	0.23688|0.23688	0.0573|0.0573	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.29085	.|0.232;0.149	.|B;B	.|0.29176	.|0.099;0.046	T|T	0.07121|0.07121	-1.0789|-1.0789	5|10	.|0.56958	.|D	.|0.05	.|.	11.3595|11.3595	0.49636|0.49636	0.0:0.083:0.0:0.917|0.0:0.083:0.0:0.917	.|.	.|887;887	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	V|C	769|887	.|ENSP00000387165:Y887C;ENSP00000300584:Y887C	.|ENSP00000300584:Y887C	I|Y	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76081052|76081052	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	5.078000|5.078000	0.64425|0.64425	2.123000|2.123000	0.65237|0.65237	0.459000|0.459000	0.35465|0.35465	ATC|TAT		PASS	0.443	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		15	18	15	18	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79298747	79298747	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:79298747A>T	ENST00000419573.3	-	15	2169	c.1895T>A	c.(1894-1896)gTt>gAt	p.V632D	RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V619D|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	632					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V632D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGAATGTCAACATCATCACA	0.562																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1894-1896)GTT>GAT		Ras protein-specific guanine							99.0	85.0	90.0					15																	79298747		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79298747A>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1895T>A	15.37:g.79298747A>T	ENSP00000405963:p.Val632Asp					RASGRF1_uc002bep.2_Missense_Mutation_p.V619D|RASGRF1_uc010blm.1_Missense_Mutation_p.V541D|RASGRF1_uc002ber.3_Missense_Mutation_p.V619D|RASGRF1_uc010unh.1_Missense_Mutation_p.V27D	p.V632D	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			15	2270	-			632					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1895T>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225728	0.79576	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.50813	0.73	4.74	4.74	0.60224	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000003	T	0.46678	0.1405	L	0.27053	0.805	0.80722	D	1	D;P;D;P;P	0.63046	0.992;0.93;0.964;0.93;0.889	P;P;P;P;P	0.58520	0.84;0.67;0.67;0.67;0.726	T	0.26292	-1.0107	10	0.15066	T	0.55	.	12.238	0.54526	1.0:0.0:0.0:0.0	.	28;632;619;632;619	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	D	632;619	ENSP00000405963:V632D	ENSP00000378224:V619D	V	-	2	0	RASGRF1	77085802	1.000000	0.71417	0.827000	0.32855	0.941000	0.58515	5.961000	0.70356	2.000000	0.58554	0.482000	0.46254	GTT		PASS	0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		28	84	28	84	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91425048	91425048	+	Silent	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:91425048A>T	ENST00000268171.3	+	16	2604	c.2325A>T	c.(2323-2325)tcA>tcT	p.S775S	FES_ENST00000394302.1_5'Flank|FES_ENST00000328850.3_5'Flank|FES_ENST00000414248.2_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	775					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S775S(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGTCTGACTCAGAAGAGGACG	0.622																																						uc002bpu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(2323-2325)TCA>TCT		furin preproprotein							40.0	44.0	43.0					15																	91425048		2198	4297	6495	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91425048A>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2325A>T	15.37:g.91425048A>T						FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank	p.S775S	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2541	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		775			Trans Golgi network signal.		Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.2325A>T	CCDS10364.1																																																																																				PASS	0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		41	65	41	65	---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91489919	91489919	+	Silent	SNP	A	A	T	rs12911432	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:91489919A>T	ENST00000418476.2	+	10	1315	c.1275A>T	c.(1273-1275)ccA>ccT	p.P425P	UNC45A_ENST00000394275.2_Silent_p.P410P	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	425					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P425P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGCAGGGCCCATGTGACGCTG	0.657																																						uc002bqg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1273-1275)CCA>CCT		smooth muscle cell associated protein-1 isoform							55.0	50.0	52.0					15																	91489919		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91489919A>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1275A>T	15.37:g.91489919A>T						UNC45A_uc002bqd.2_Silent_p.P410P|UNC45A_uc010uqr.1_5'Flank|UNC45A_uc002bqi.2_5'Flank	p.P425P	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		10	1615	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		425					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.1275A>T	CCDS10367.1																																																																																				PASS	0.657	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		14	39	14	39	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100871133	100871133	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr15:100871133C>T	ENST00000268070.4	-	3	682	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	193						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E193K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCTGGGCCTCAGCAGAAGGG	0.577																																						uc002bvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(577-579)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							114.0	112.0	112.0					15																	100871133		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100871133C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.577G>A	15.37:g.100871133C>T	ENSP00000268070:p.Glu193Lys					ADAMTS17_uc002bvx.1_5'UTR	p.E193K	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	3	656	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		193					Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.577G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.834543	0.00579	.	.	ENSG00000140470	ENST00000268070	T	0.60920	0.15	4.98	0.291	0.15732	.	0.887947	0.09719	N	0.764709	T	0.28366	0.0701	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.05833	T	0.94	.	4.2314	0.10604	0.0:0.3685:0.174:0.4575	.	193	Q8TE56	ATS17_HUMAN	K	193	ENSP00000268070:E193K	ENSP00000268070:E193K	E	-	1	0	ADAMTS17	98688656	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.452000	0.06787	0.139000	0.18822	-0.137000	0.14449	GAG		PASS	0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		46	136	46	136	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1396058	1396058	+	Silent	SNP	C	C	A	rs541680695	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:1396058C>A	ENST00000324385.5	+	24	2543	c.2385C>A	c.(2383-2385)gcC>gcA	p.A795A	BAIAP3_ENST00000568887.1_Silent_p.A732A|BAIAP3_ENST00000421665.2_Silent_p.A724A|BAIAP3_ENST00000397488.2_Silent_p.A777A|BAIAP3_ENST00000397489.1_Silent_p.A777A|BAIAP3_ENST00000426824.3_Silent_p.A760A|BAIAP3_ENST00000562208.1_Silent_p.A737A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	795					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.A795A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGGGGCGGCCGGTGAAGCAG	0.677																																						uc002clk.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2383-2385)GCC>GCA		BAI1-associated protein 3							24.0	26.0	25.0					16																	1396058		2197	4296	6493	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396058C>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2385C>A	16.37:g.1396058C>A						BAIAP3_uc002clj.2_Silent_p.A777A|BAIAP3_uc010uuz.1_Silent_p.A760A|BAIAP3_uc010uva.1_Silent_p.A732A|BAIAP3_uc010uvc.1_Silent_p.A724A	p.A795A	NM_003933	NP_003924	O94812	BAIP3_HUMAN			24	2385	+		Hepatocellular(780;0.0893)	795					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.2385C>A	CCDS10434.1																																																																																				PASS	0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			4	7	4	7	---	---	---	---
UNKL	64718	broad.mit.edu	37	16	1417165	1417165	+	Intron	SNP	G	G	A	rs529314659		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:1417165G>A	ENST00000389221.4	-	14	1887				UNKL_ENST00000403703.1_Silent_p.I157I|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000402641.2_Silent_p.I157I|UNKL_ENST00000508903.2_Silent_p.I658I|UNKL_ENST00000391893.2_Silent_p.I154I|UNKL_ENST00000248104.7_Silent_p.I154I	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I157I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GAATGGTGCCGATGTCCCCAC	0.687													g|||	1	0.000199681	0.0	0.0	5008	,	,		12411	0.001		0.0	False		,,,				2504	0.0					uc002cln.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)ATC>ATT		unkempt homolog (Drosophila)-like isoform 1							20.0	18.0	19.0					16																	1417165		2193	4284	6477	SO:0001627	intron_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417165G>A	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1887+77C>T	16.37:g.1417165G>A						UNKL_uc010brn.1_Intron|UNKL_uc002clo.2_Silent_p.I154I|UNKL_uc002clp.2_Intron	p.I157I	NM_023076	NP_075564	Q9H9P5	UNKL_HUMAN			5	858	-		Hepatocellular(780;0.0893)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	c.471C>T	CCDS53981.1																																																																																				PASS	0.687	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		4	3	4	3	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4411466	4411466	+	Missense_Mutation	SNP	C	C	T	rs200108761		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:4411466C>T	ENST00000251166.4	-	17	1728	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.R308Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R510Q|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R528Q|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000574025.1_Missense_Mutation_p.R443Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	528					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.R528Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCCAGGCTTCCGTAGCTGTGG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16799	0.0		0.0	False		,,,				2504	0.0					uc002cwh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1582-1584)CGG>CAG		coronin 7							38.0	40.0	39.0					16																	4411466		2195	4296	6491	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4411466C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1583G>A	16.37:g.4411466C>T	ENSP00000251166:p.Arg528Gln					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R528Q|CORO7_uc002cwg.3_Missense_Mutation_p.R308Q|CORO7_uc010uxh.1_Missense_Mutation_p.R510Q|CORO7_uc010uxi.1_Missense_Mutation_p.R443Q|CORO7_uc002cwi.1_Missense_Mutation_p.R308Q|CORO7_uc010uxj.1_RNA	p.R528Q	NM_024535	NP_078811	P57737	CORO7_HUMAN			17	1703	-			528					B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1583G>A	CCDS10513.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.05	1.244734	0.22796	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T;T	0.64803	0.16;-0.12;0.16	5.11	-6.09	0.02145	.	1.158550	0.06221	N	0.686847	T	0.38480	0.1042	N	0.12569	0.235	0.80722	D	1	B;B;B;B;B	0.10296	0.003;0.0;0.001;0.001;0.002	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.0	T	0.05852	-1.0860	10	0.19147	T	0.46	-3.8687	10.6507	0.45647	0.0:0.1909:0.1124:0.6967	.	443;510;308;528;509	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	Q	528;443;308	ENSP00000251166:R528Q;ENSP00000440460:R443Q;ENSP00000446221:R308Q	ENSP00000251166:R528Q	R	-	2	0	CORO7	4351467	0.012000	0.17670	0.714000	0.30535	0.423000	0.31445	-1.034000	0.03567	-1.472000	0.01883	-1.036000	0.02392	CGG		PASS	0.682	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		29	25	29	25	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857192	9857192	+	Silent	SNP	C	C	G	rs558095250		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:9857192C>G	ENST00000396573.2	-	14	4518	c.4209G>C	c.(4207-4209)tcG>tcC	p.S1403S	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000330684.3_Silent_p.S1403S|GRIN2A_ENST00000396575.2_Silent_p.S1403S|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1403					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1403S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCTCAAGGACGACCGAAGAT	0.512																																						uc002czo.3																			1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4207-4209)TCG>TCC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						117.0	101.0	106.0					16																	9857192		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857192C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4209G>C	16.37:g.9857192C>G						GRIN2A_uc010uym.1_Silent_p.S1403S|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.S1403S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4757	-			1403			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.4209G>C	CCDS10539.1																																																																																				PASS	0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			40	35	40	35	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17294508	17294508	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:17294508T>G	ENST00000261381.6	-	4	1001	c.917A>C	c.(916-918)aAa>aCa	p.K306T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	306					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.K306T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTTGGCTTTACCTGGGGA	0.547																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(916-918)AAA>ACA		xylosyltransferase I							146.0	129.0	135.0					16																	17294508		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294508T>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.917A>C	16.37:g.17294508T>G	ENSP00000261381:p.Lys306Thr						p.K306T	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			4	1002	-			306			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.917A>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554290	0.86231	.	.	ENSG00000103489	ENST00000261381	T	0.05025	3.51	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00397	-1.1765	10	0.40728	T	0.16	-14.0245	14.8382	0.70201	0.0:0.0:0.0:1.0	.	306	Q86Y38	XYLT1_HUMAN	T	306	ENSP00000261381:K306T	ENSP00000261381:K306T	K	-	2	0	XYLT1	17202009	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.603000	0.82811	2.097000	0.63578	0.533000	0.62120	AAA		PASS	0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		82	89	82	89	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22262526	22262526	+	Silent	SNP	C	C	T	rs55959085	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:22262526C>T	ENST00000263026.5	+	6	975	c.501C>T	c.(499-501)taC>taT	p.Y167Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	167	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y167Y(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCTCCAACTACGTGGCGAAGC	0.592													C|||	13	0.00259585	0.0098	0.0	5008	,	,		19702	0.0		0.0	False		,,,				2504	0.0				NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(499-501)TAC>TAT		elongation factor-2 kinase		C		52,4342	53.6+/-89.4	1,50,2146	123.0	111.0	115.0		501	0.1	1.0	16	dbSNP_129	115	0,8600		0,0,4300	yes	coding-synonymous	EEF2K	NM_013302.3		1,50,6446	TT,TC,CC		0.0,1.1834,0.4002		167/726	22262526	52,12942	2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22262526C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.501C>T	16.37:g.22262526C>T						EEF2K_uc002dkh.2_RNA	p.Y167Y	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	6	986	+			167			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.501C>T	CCDS10604.1																																																																																				PASS	0.592	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		55	122	55	122	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27497348	27497348	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:27497348G>A	ENST00000356183.4	-	24	3843	c.3828C>T	c.(3826-3828)tgC>tgT	p.C1276C	GTF3C1_ENST00000561623.1_Silent_p.C1276C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1276					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.C1276C(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGCAATGCGGCACAGCACAA	0.632																																						uc002dov.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3826-3828)TGC>TGT		general transcription factor IIIC, polypeptide							143.0	115.0	125.0					16																	27497348		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27497348G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3828C>T	16.37:g.27497348G>A						GTF3C1_uc002dou.2_Silent_p.C1276C	p.C1276C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			24	3868	-			1276					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.3828C>T	CCDS32414.1																																																																																				PASS	0.632	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	161	4	161	---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31235551	31235551	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:31235551G>T	ENST00000322122.3	+	7	1193	c.909G>T	c.(907-909)gtG>gtT	p.V303V	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase									p.V303V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CGAGCCTGGTGGTGTCTTCCT	0.687																																						uc002ebn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(907-909)GTG>GTT		tripartite motif-containing 72							22.0	23.0	23.0					16																	31235551		2192	4289	6481	SO:0001819	synonymous_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235551G>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.909G>T	16.37:g.31235551G>T						uc002ebp.1_5'Flank	p.V303V	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			7	1138	+			303			B30.2/SPRY.			Silent	SNP	ENST00000322122.3	37	c.909G>T	CCDS32437.1																																																																																				PASS	0.687	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		7	14	7	14	---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49315138	49315138	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:49315138C>T	ENST00000219197.6	-	1	604	c.239G>A	c.(238-240)cGc>cAc	p.R80H	CBLN1_ENST00000536749.1_Missense_Mutation_p.R80H	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	80	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)		p.R80H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GATCATGGTGCGATTACTCAT	0.607																																						uc002efq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CGC>CAC		cerebellin 1 precursor							72.0	74.0	73.0					16																	49315138		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49315138C>T	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.239G>A	16.37:g.49315138C>T	ENSP00000219197:p.Arg80His						p.R80H	NM_004352	NP_004343	P23435	CBLN1_HUMAN			1	578	-		all_cancers(37;0.0766)|all_lung(18;0.24)	80			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.239G>A	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888032	0.91814	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82167	-1.58;-1.58	4.47	4.47	0.54385	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.85897	0.1432	10	0.40728	T	0.16	-3.3652	16.9081	0.86133	0.0:1.0:0.0:0.0	.	80	P23435	CBLN1_HUMAN	H	80	ENSP00000219197:R80H;ENSP00000444651:R80H	ENSP00000219197:R80H	R	-	2	0	CBLN1	47872639	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.636000	0.54317	2.314000	0.78098	0.462000	0.41574	CGC		PASS	0.607	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		25	42	25	42	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67579917	67579917	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:67579917G>A	ENST00000379312.3	+	20	3586	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	FAM65A_ENST00000042381.4_Silent_p.L1151L|FAM65A_ENST00000428437.2_Silent_p.L1165L|FAM65A_ENST00000422602.2_Silent_p.L1171L|FAM65A_ENST00000540839.3_Silent_p.L1170L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1155						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.L1151L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGGCTGCCTGGCCCTAGGCT	0.652																																						uc010vjp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3511-3513)CTG>CTA		hypothetical protein LOC79567							89.0	87.0	88.0					16																	67579917		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67579917G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3465G>A	16.37:g.67579917G>A						FAM65A_uc002eth.2_Silent_p.L1151L|FAM65A_uc010cej.2_Silent_p.L1154L|FAM65A_uc010vjq.1_Silent_p.L1165L|FAM65A_uc002etk.2_Silent_p.L1149L	p.L1171L	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	20	3609	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1155					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.3513G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	6.474	0.455612	0.12283	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.58	1.38	0.22167	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	-8.2088	2.7054	0.05161	0.1333:0.1177:0.3873:0.3617	.	.	.	.	S	1145	.	.	G	+	1	0	FAM65A	66137418	0.642000	0.27260	0.998000	0.56505	0.993000	0.82548	0.014000	0.13333	0.043000	0.15746	0.655000	0.94253	GGC		PASS	0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		9	94	9	94	---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86602312	86602312	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:86602312C>T	ENST00000320354.4	+	1	1456	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	457					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H457H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TCAACTCCCACCGGCTGGGGA	0.637									Late-onset Hereditary Lymphedema																													uc002fjq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1369-1371)CAC>CAT		forkhead box C2							34.0	35.0	35.0					16																	86602312		2182	4269	6451	SO:0001819	synonymous_variant	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602312C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1371C>T	16.37:g.86602312C>T							p.H457H	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	1456	+			457					C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1371C>T	CCDS10958.1																																																																																				PASS	0.637	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		17	28	17	28	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89350274	89350274	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr16:89350274G>C	ENST00000301030.4	-	9	3136	c.2676C>G	c.(2674-2676)agC>agG	p.S892R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S892R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	892	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S892R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCGGGCCCGGCTGTCCCGCC	0.547																																						uc002fmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2674-2676)AGC>AGG		ankyrin repeat domain 11							58.0	62.0	61.0					16																	89350274		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350274G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2676C>G	16.37:g.89350274G>C	ENSP00000301030:p.Ser892Arg					ANKRD11_uc002fmy.1_Missense_Mutation_p.S892R|ANKRD11_uc002fnc.1_Missense_Mutation_p.S892R|ANKRD11_uc002fnb.1_Missense_Mutation_p.S849R	p.S892R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3137	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	892			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2676C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.039180	0.02013	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38077	1.16;1.16	5.44	3.49	0.39957	.	0.714815	0.13395	N	0.391077	T	0.23572	0.0570	N	0.22421	0.69	0.09310	N	0.999997	P;P	0.40834	0.73;0.61	B;B	0.40009	0.316;0.168	T	0.05131	-1.0904	10	0.12766	T	0.61	.	10.1443	0.42753	0.2157:0.0:0.7843:0.0	.	511;892	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	R	892;892;511	ENSP00000301030:S892R;ENSP00000367581:S892R	ENSP00000301030:S892R	S	-	3	2	ANKRD11	87877775	0.070000	0.21116	0.003000	0.11579	0.065000	0.16274	0.442000	0.21628	1.302000	0.44855	-0.194000	0.12790	AGC		PASS	0.547	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		51	61	51	61	---	---	---	---
GLTPD2	388323	broad.mit.edu	37	17	4692356	4692356	+	Missense_Mutation	SNP	C	C	T	rs374396527		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:4692356C>T	ENST00000331264.7	+	1	103	c.50C>T	c.(49-51)tCa>tTa	p.S17L	VMO1_ENST00000328739.5_5'Flank|VMO1_ENST00000354194.4_5'Flank|VMO1_ENST00000441199.2_5'Flank|VMO1_ENST00000416307.2_5'Flank	NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	17						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.S17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TTCAGCCACTCAATTCCTCTC	0.662																																						uc002fza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)TCA>TTA		glycolipid transfer protein domain containing 2							55.0	45.0	49.0					17																	4692356		2203	4300	6503	SO:0001583	missense	388323							g.chr17:4692356C>T	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.50C>T	17.37:g.4692356C>T	ENSP00000328070:p.Ser17Leu					VMO1_uc002fyx.2_5'Flank|VMO1_uc010vsh.1_5'Flank|VMO1_uc010vsi.1_5'Flank|VMO1_uc002fyy.2_5'Flank|uc002fyz.2_3'UTR	p.S17L	NM_001014985	NP_001014985					1	103	+								A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	c.50C>T	CCDS32534.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039115	0.35989	.	.	ENSG00000182327	ENST00000331264	.	.	.	4.24	3.27	0.37495	.	0.411376	0.24222	N	0.040427	T	0.25975	0.0633	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.14023	0.01	T	0.21008	-1.0258	9	0.72032	D	0.01	.	8.1476	0.31121	0.0:0.889:0.0:0.111	.	17	A6NH11	GLTD2_HUMAN	L	17	.	ENSP00000328070:S17L	S	+	2	0	GLTPD2	4639096	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.181000	0.16880	1.148000	0.42385	0.561000	0.74099	TCA		PASS	0.662	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		5	31	5	31	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577025	7577025	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:7577025T>A	ENST00000269305.4	-	8	1102	c.913A>T	c.(913-915)Aag>Tag	p.K305*	TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000420246.2_Nonsense_Mutation_p.K305*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	305	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTACCTCGCTTAGTGCTCCCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		33	Substitution - Nonsense(19)|Whole gene deletion(8)|Unknown(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.K305*(15)|p.0?(7)|p.?(3)|p.K305N(3)|p.K305R(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*1(1)|p.K305fs*32(1)|p.K305T(1)	upper_aerodigestive_tract(8)|lung(5)|urinary_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|breast(2)|oesophagus(2)|large_intestine(1)|stomach(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(913-915)AAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							118.0	103.0	108.0					17																	7577025		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577025T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.913A>T	17.37:g.7577025T>A	ENSP00000269305:p.Lys305*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.K305*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.K173*|TP53_uc010cng.1_Nonsense_Mutation_p.K173*|TP53_uc002gii.1_Nonsense_Mutation_p.K173*|TP53_uc010cnh.1_Nonsense_Mutation_p.K305*|TP53_uc010cni.1_Nonsense_Mutation_p.K305*|TP53_uc002gij.2_Nonsense_Mutation_p.K305*	p.K305*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1107	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	305		K -> E (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.913A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043953	0.93685	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	5.26	0.73747	.	1.688560	0.03760	N	0.258052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.76	11.4858	0.50352	0.0:0.0:0.0:1.0	.	.	.	.	X	305;305;305;305;305;294;173	.	ENSP00000269305:K305X	K	-	1	0	TP53	7517750	1.000000	0.71417	0.901000	0.35422	0.316000	0.28119	4.679000	0.61649	2.208000	0.71279	0.459000	0.35465	AAG		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		108	66	108	66	---	---	---	---
TRAPPC1	58485	broad.mit.edu	37	17	7834841	7834841	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:7834841C>T	ENST00000303731.4	-	2	268	c.153G>A	c.(151-153)aaG>aaA	p.K51K	CNTROB_ENST00000565740.1_5'Flank|CNTROB_ENST00000380262.3_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000563694.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.K51K|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	51					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)		p.K51K(1)		breast(1)|lung(2)	3		Prostate(122;0.173)				GCGGGGACATCTTGCTGACAA	0.542																																						uc002gjo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)AAG>AAA		trafficking protein particle complex 1							67.0	62.0	64.0					17																	7834841		2203	4300	6503	SO:0001819	synonymous_variant	58485				ER to Golgi vesicle-mediated transport	endoplasmic reticulum		g.chr17:7834841C>T	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.153G>A	17.37:g.7834841C>T						KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank|CNTROB_uc002gjr.2_5'Flank	p.K51K	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN			2	269	-		Prostate(122;0.173)	51					D3DTR0	Silent	SNP	ENST00000303731.4	37	c.153G>A	CCDS11125.1																																																																																				PASS	0.542	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		26	63	26	63	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11666769	11666769	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:11666769C>A	ENST00000262442.4	+	36	7076	c.7008C>A	c.(7006-7008)atC>atA	p.I2336I	DNAH9_ENST00000454412.2_Silent_p.I2336I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2336					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I2336I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAAGAAGATCATTCCCATCC	0.498																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7006-7008)ATC>ATA		dynein, axonemal, heavy chain 9 isoform 2							162.0	153.0	156.0					17																	11666769		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666769C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7008C>A	17.37:g.11666769C>A						DNAH9_uc010coo.2_Silent_p.I1630I	p.I2336I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7076	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2336					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7008C>A	CCDS11160.1																																																																																				PASS	0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	259	5	259	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	32483431	32483431	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:32483431G>A	ENST00000359872.6	-	1	882	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	41					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R41W(1)								Amiloride(DB00594)	AGCACACGCCGGATGGTCAGC	0.602																																						uc002hhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(121-123)CGG>TGG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						47.0	53.0	51.0					17																	32483431		2203	4298	6501	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483431G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.121C>T	17.37:g.32483431G>A	ENSP00000352934:p.Arg41Trp						p.R41W	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	395	-		Breast(31;0.042)|Ovarian(249;0.202)	41			Helical; (Potential).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.121C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279393	0.80692	.	.	ENSG00000108684	ENST00000359872	T	0.66815	-0.23	4.96	4.96	0.65561	.	.	.	.	.	T	0.81138	0.4760	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83225	-0.0066	9	0.72032	D	0.01	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	41	Q16515	ACCN1_HUMAN	W	41	ENSP00000352934:R41W	ENSP00000352934:R41W	R	-	1	2	ACCN1	29507544	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.329000	0.59260	2.559000	0.86315	0.655000	0.94253	CGG		PASS	0.602	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		4	69	4	69	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38857508	38857508	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:38857508C>T	ENST00000264651.2	-	3	795	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	247	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.D247N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATTGATGTCAGCCTCCACG	0.547																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GAC>AAC		keratin 24							87.0	77.0	80.0					17																	38857508		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857508C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.739G>A	17.37:g.38857508C>T	ENSP00000264651:p.Asp247Asn						p.D247N	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			3	796	-		Breast(137;0.00526)	247			Rod.|Coil 1B.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.739G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150957	0.94645	.	.	ENSG00000167916	ENST00000264651	D	0.89485	-2.52	5.82	5.82	0.92795	Filament (1);	.	.	.	.	D	0.94833	0.8331	M	0.78344	2.41	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94710	0.7891	9	0.87932	D	0	.	20.1734	0.98165	0.0:1.0:0.0:0.0	.	247	Q2M2I5	K1C24_HUMAN	N	247	ENSP00000264651:D247N	ENSP00000264651:D247N	D	-	1	0	KRT24	36111034	1.000000	0.71417	0.989000	0.46669	0.621000	0.37620	7.818000	0.86416	2.767000	0.95098	0.558000	0.71614	GAC		PASS	0.547	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		31	72	31	72	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44109491	44109491	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:44109491A>G	ENST00000262419.6	-	14	3482	c.3012T>C	c.(3010-3012)ccT>ccC	p.P1004P	KANSL1_ENST00000575318.1_Silent_p.P940P|KANSL1_ENST00000432791.1_Silent_p.P1004P|KANSL1_ENST00000574590.1_Silent_p.P1004P|KANSL1_ENST00000393476.3_Silent_p.P298P|KANSL1_ENST00000572904.1_Silent_p.P1004P	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1004	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P1004P(1)									CCCGAGCCACAGGGGTGAGGG	0.592																																						uc002ikb.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(3010-3012)CCT>CCC		hypothetical protein LOC284058							60.0	61.0	60.0					17																	44109491		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44109491A>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3012T>C	17.37:g.44109491A>G						KIAA1267_uc002ikc.2_Silent_p.P1004P|KIAA1267_uc002ikd.2_Silent_p.P1004P|KIAA1267_uc010dav.2_Silent_p.P1003P|KIAA1267_uc010wkb.1_Silent_p.P335P|KIAA1267_uc010wkc.1_Silent_p.P272P	p.P1004P	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			13	3097	-		Melanoma(429;0.211)	1004					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.3012T>C	CCDS11503.1																																																																																				PASS	0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		3	118	3	118	---	---	---	---
LPO	4025	broad.mit.edu	37	17	56320361	56320361	+	Silent	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:56320361C>G	ENST00000262290.4	+	2	337	c.21C>G	c.(19-21)ctC>ctG	p.L7L	LPO_ENST00000543544.1_5'UTR|LPO_ENST00000421678.2_Silent_p.L7L|LPO_ENST00000582328.1_Silent_p.L7L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	7					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.L7L(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TTCTCCATCTCCCAGCCCTCC	0.532																																						uc002ivt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(19-21)CTC>CTG		lactoperoxidase isoform 1 preproprotein							215.0	189.0	198.0					17																	56320361		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56320361C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.21C>G	17.37:g.56320361C>G						LPO_uc010dco.2_Silent_p.L7L|LPO_uc010wnr.1_Silent_p.L7L|LPO_uc010wns.1_5'UTR|LPO_uc010dcp.2_Silent_p.L7L	p.L7L	NM_006151	NP_006142	P22079	PERL_HUMAN			2	337	+			7					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.21C>G	CCDS32689.1																																																																																				PASS	0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			83	235	83	235	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58128309	58128309	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:58128309G>T	ENST00000184956.6	-	15	2335	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	773							poly(A) RNA binding (GO:0044822)	p.N773K(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTAAAGGACCGTTCAGCATCA	0.537																																						uc002iyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2317-2319)AAC>AAA		HEAT repeat containing 6							86.0	71.0	76.0					17																	58128309		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58128309G>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2319C>A	17.37:g.58128309G>T	ENSP00000184956:p.Asn773Lys					HEATR6_uc010ddk.1_Missense_Mutation_p.N312K|HEATR6_uc010wos.1_Intron	p.N773K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		15	2336	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		773					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2319C>A	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	g	11.78	1.741163	0.30865	.	.	ENSG00000068097	ENST00000184956	T	0.30182	1.54	5.31	-6.46	0.01908	Armadillo-like helical (1);Armadillo-type fold (1);	0.179175	0.64402	D	0.000014	T	0.18087	0.0434	M	0.63428	1.95	0.80722	D	1	P	0.34977	0.478	B	0.28385	0.089	T	0.46830	-0.9163	10	0.07325	T	0.83	-6.9816	10.4651	0.44602	0.703:0.0:0.2028:0.0942	.	773	Q6AI08	HEAT6_HUMAN	K	773	ENSP00000184956:N773K	ENSP00000184956:N773K	N	-	3	2	HEATR6	55483091	0.042000	0.20092	0.263000	0.24496	0.920000	0.55202	-0.537000	0.06128	-1.420000	0.02009	-2.140000	0.00339	AAC		PASS	0.537	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		18	59	18	59	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67028385	67028385	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:67028385A>G	ENST00000340001.4	-	10	1520	c.1309T>C	c.(1309-1311)Ttc>Ctc	p.F437L	ABCA9_ENST00000453985.2_Missense_Mutation_p.F437L|ABCA9_ENST00000370732.2_Missense_Mutation_p.F437L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	437					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F437L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTCAGGAAAAACAAGGGA	0.423																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1309-1311)TTC>CTC		ATP-binding cassette, sub-family A, member 9							98.0	81.0	87.0					17																	67028385		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67028385A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1309T>C	17.37:g.67028385A>G	ENSP00000342216:p.Phe437Leu					ABCA9_uc010dez.2_Missense_Mutation_p.F437L	p.F437L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			10	1452	-	Breast(10;1.47e-12)		437					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1309T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609415	0.87258	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D;D	0.90069	-2.61;-1.95;-2.41	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000099	D	0.88055	0.6334	M	0.66297	2.02	0.44261	D	0.997113	P;P	0.42409	0.529;0.779	B;B	0.40506	0.331;0.32	D	0.89246	0.3587	10	0.62326	D	0.03	.	13.9267	0.63966	1.0:0.0:0.0:0.0	.	437;437	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	437;420;437;432	ENSP00000342216:F437L;ENSP00000394264:F420L;ENSP00000359767:F437L	ENSP00000342216:F437L	F	-	1	0	ABCA9	64539980	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	8.335000	0.90031	2.028000	0.59812	0.496000	0.49642	TTC		PASS	0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		37	80	37	80	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67109871	67109871	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:67109871C>A	ENST00000284425.2	-	14	1964	c.1790G>T	c.(1789-1791)cGa>cTa	p.R597L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	597	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R597Q(1)|p.R597L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAATAATATTCGTTGTACCTA	0.328																																						uc002jhw.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1789-1791)CGA>CTA		ATP-binding cassette, sub-family A, member 6							88.0	79.0	82.0					17																	67109871		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67109871C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1790G>T	17.37:g.67109871C>A	ENSP00000284425:p.Arg597Leu					ABCA6_uc002jhx.1_Missense_Mutation_p.R50L	p.R597L	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			14	1965	-	Breast(10;5.65e-12)		597			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1790G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672217	0.47781	.	.	ENSG00000154262	ENST00000284425	D	0.93953	-3.32	4.96	-5.1	0.02911	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.506301	0.17612	N	0.168051	D	0.92394	0.7586	L	0.43646	1.37	0.35664	D	0.812754	D	0.58620	0.983	P	0.62184	0.899	D	0.90782	0.4680	10	0.72032	D	0.01	.	10.3152	0.43732	0.1097:0.1424:0.0:0.7478	.	597	Q8N139	ABCA6_HUMAN	L	597	ENSP00000284425:R597L	ENSP00000284425:R597L	R	-	2	0	ABCA6	64621466	0.039000	0.19947	0.002000	0.10522	0.376000	0.30014	0.215000	0.17562	-1.059000	0.03193	-0.237000	0.12165	CGA		PASS	0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		3	98	3	98	---	---	---	---
TSEN54	283989	broad.mit.edu	37	17	73517590	73517590	+	Splice_Site	SNP	C	C	A	rs147165460	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:73517590C>A	ENST00000333213.6	+	7	658	c.622C>A	c.(622-624)Cgg>Agg	p.R208R		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	208					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.R208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCAGCCCTCGGTAACTCCC	0.587																																						uc002jof.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(622-624)CGG>AGG		tRNA splicing endonuclease 54 homolog							87.0	82.0	84.0					17																	73517590		2203	4300	6503	SO:0001630	splice_region_variant	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73517590C>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.623+1C>A	17.37:g.73517590C>A						TSEN54_uc002joe.1_3'UTR	p.R208R	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	655	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		208					Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	37	c.622C>A	CCDS11724.1																																																																																				PASS	0.587	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346	Silent	6	67	6	67	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74013980	74013980	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:74013980G>C	ENST00000301607.3	-	14	1803	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.S539*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.S517*(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCAGGTCTGAGCCAGATGG	0.657																																						uc002jqi.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(1549-1551)TCA>TGA		envoplakin							39.0	42.0	41.0					17																	74013980		2203	4300	6503	SO:0001587	stop_gained	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013980G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1550C>G	17.37:g.74013980G>C	ENSP00000301607:p.Ser517*					EVPL_uc010wss.1_Nonsense_Mutation_p.S539*|EVPL_uc010wst.1_5'UTR	p.S517*	NM_001988	NP_001979	Q92817	EVPL_HUMAN			14	1778	-			517			Globular 1.		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	c.1550C>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.462950	0.97585	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.88	3.91	0.45181	.	0.237968	0.35235	N	0.003355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.644	8.9554	0.35814	0.2194:0.0:0.7806:0.0	.	.	.	.	X	517	.	ENSP00000301607:S517X	S	-	2	0	EVPL	71525575	0.025000	0.19082	0.012000	0.15200	0.030000	0.12068	1.790000	0.38734	1.215000	0.43411	0.561000	0.74099	TCA		PASS	0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		24	57	24	57	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80828142	80828142	+	Missense_Mutation	SNP	G	G	T	rs376875000		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr17:80828142G>T	ENST00000355528.4	+	14	1491	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	TBCD_ENST00000539345.2_Missense_Mutation_p.R454L|TBCD_ENST00000397466.2_Missense_Mutation_p.R68L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	454					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R454L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GACGAGAAGCGGGGTGCCTGC	0.632																																						uc002kfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1360-1362)CGG>CTG		beta-tubulin cofactor D							57.0	65.0	62.0					17																	80828142		2142	4233	6375	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828142G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1361G>T	17.37:g.80828142G>T	ENSP00000347719:p.Arg454Leu					TBCD_uc002kfx.1_Missense_Mutation_p.R437L|TBCD_uc002kfy.1_Missense_Mutation_p.R454L	p.R454L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1491	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	454					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1361G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139312	0.77775	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.18174	2.23;2.23	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	M	0.88181	2.935	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.882	D;D;P	0.79784	0.985;0.993;0.784	T	0.55140	-0.8187	9	.	.	.	.	16.1871	0.81960	0.0:0.0:1.0:0.0	.	454;454;454	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	L	454;205;68;454	ENSP00000347719:R454L;ENSP00000380608:R68L	.	R	+	2	0	TBCD	78421431	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	8.856000	0.92245	2.591000	0.87537	0.655000	0.94253	CGG		PASS	0.632	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		23	58	23	58	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	346755	346755	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr18:346755C>A	ENST00000400256.3	-	5	1074	c.867G>T	c.(865-867)caG>caT	p.Q289H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	289					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.Q289H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ATGAGTTGAGCTGGCTGTTCA	0.507																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(865-867)CAG>CAT		collectin sub-family member 12							183.0	150.0	161.0					18																	346755		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346755C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.867G>T	18.37:g.346755C>A	ENSP00000383115:p.Gln289His						p.Q289H	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1082	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	289			Potential.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.867G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234533	0.39498	.	.	ENSG00000158270	ENST00000400256	D	0.97138	-4.26	6.08	2.93	0.34026	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	L	0.34521	1.04	0.49582	D	0.999803	D	0.89917	1.0	D	0.83275	0.996	D	0.95466	0.8547	10	0.49607	T	0.09	-15.494	10.5339	0.44992	0.0:0.715:0.0:0.285	.	289	Q5KU26	COL12_HUMAN	H	289	ENSP00000383115:Q289H	ENSP00000383115:Q289H	Q	-	3	2	COLEC12	336755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.202000	0.32271	0.909000	0.36697	0.655000	0.94253	CAG		PASS	0.507	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			106	70	106	70	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395077	5395077	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr18:5395077C>T	ENST00000341928.2	-	21	3482	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N	EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1048N|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D345N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D879N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D826N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D353N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D826N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1048	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.D1048N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGTCATGGTCAATGTCTGCA	0.448																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3142-3144)GAC>AAC		erythrocyte membrane protein band 4.1-like 3							149.0	128.0	135.0					18																	5395077		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395077C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3142G>A	18.37:g.5395077C>T	ENSP00000343158:p.Asp1048Asn					EPB41L3_uc010wzh.1_Missense_Mutation_p.D879N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D826N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D717N|EPB41L3_uc002kms.1_Missense_Mutation_p.D283N|EPB41L3_uc010wze.1_Missense_Mutation_p.D353N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D345N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D320N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D440N	p.D1048N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			21	3228	-			1048			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3142G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.733790	0.96865	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.995;0.999;1.0;0.999;0.994;1.0;0.999	D	0.94750	0.7926	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	879;345;353;440;717;826;1048;283	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	1048;717;879;717;345;353;1048;826	ENSP00000343158:D1048N;ENSP00000441174:D879N;ENSP00000392195:D345N;ENSP00000442233:D353N;ENSP00000341138:D1048N;ENSP00000382981:D826N	ENSP00000343158:D1048N	D	-	1	0	EPB41L3	5385077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAC		PASS	0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		77	57	77	57	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30321982	30321982	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr18:30321982C>A	ENST00000359358.4	-	3	1416	c.978G>T	c.(976-978)ttG>ttT	p.L326F	KLHL14_ENST00000358095.4_Missense_Mutation_p.L326F	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	326						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.L326F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCCCTCCAACCAATAACAGCA	0.433																																						uc002kxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(976-978)TTG>TTT		kelch-like 14							95.0	90.0	92.0					18																	30321982		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30321982C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.978G>T	18.37:g.30321982C>A	ENSP00000352314:p.Leu326Phe					KLHL14_uc010dmd.1_5'UTR	p.L326F	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			3	1366	-			326			Kelch 1.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.978G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204484	0.38905	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.77877	-0.35;-1.13	6.11	6.11	0.99139	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	N	0.08118	0	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.80303	-0.1439	10	0.66056	D	0.02	.	13.8713	0.63622	0.0:0.9308:0.0:0.0692	.	326	Q9P2G3	KLH14_HUMAN	F	326	ENSP00000352314:L326F;ENSP00000350808:L326F	ENSP00000350808:L326F	L	-	3	2	KLHL14	28575980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.906000	0.99361	0.655000	0.94253	TTG		PASS	0.433	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			56	35	56	35	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56585940	56585940	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr18:56585940G>C	ENST00000336078.4	+	4	1197	c.421G>C	c.(421-423)Gac>Cac	p.D141H	ZNF532_ENST00000591083.1_Missense_Mutation_p.D141H|ZNF532_ENST00000591808.1_Missense_Mutation_p.D141H|ZNF532_ENST00000589288.1_Missense_Mutation_p.D141H|ZNF532_ENST00000591230.1_Missense_Mutation_p.D141H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	141					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.D141H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTTTGATGACGACGAGAAGAT	0.532																																						uc002lho.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(421-423)GAC>CAC		zinc finger protein 532							121.0	108.0	112.0					18																	56585940		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585940G>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.421G>C	18.37:g.56585940G>C	ENSP00000338217:p.Asp141His					ZNF532_uc002lhp.2_Missense_Mutation_p.D139H|ZNF532_uc010xeg.1_Missense_Mutation_p.D139H|ZNF532_uc002lhr.2_Missense_Mutation_p.D139H|ZNF532_uc002lhs.2_Missense_Mutation_p.D139H	p.D141H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	968	+			141					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.421G>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	g	11.12	1.544996	0.27652	.	.	ENSG00000074657	ENST00000336078	T	0.01647	4.71	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00948	-1.1504	10	0.62326	D	0.03	-2.5787	18.3962	0.90499	0.0:0.0:1.0:0.0	.	141	Q9HCE3	ZN532_HUMAN	H	141	ENSP00000338217:D141H	ENSP00000338217:D141H	D	+	1	0	ZNF532	54736920	1.000000	0.71417	0.090000	0.20809	0.189000	0.23516	7.845000	0.86875	2.440000	0.82611	0.550000	0.68814	GAC		PASS	0.532	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		106	83	106	83	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082904	7082904	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:7082904G>C	ENST00000439035.2	+	8	661	c.421G>C	c.(421-423)Gga>Cga	p.G141R	ZNF557_ENST00000252840.6_Missense_Mutation_p.G148R|ZNF557_ENST00000414706.1_Missense_Mutation_p.G148R			Q8N988	ZN557_HUMAN	zinc finger protein 557	141					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.G148R(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAATCATCTTGGAGCAACACT	0.373																																						uc002mgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(421-423)GGA>CGA		zinc finger protein 557 isoform b							65.0	70.0	68.0					19																	7082904		2133	4255	6388	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082904G>C	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.421G>C	19.37:g.7082904G>C	ENSP00000398965:p.Gly141Arg					ZNF557_uc002mga.2_Missense_Mutation_p.G148R|ZNF557_uc002mgc.2_Missense_Mutation_p.G148R	p.G141R	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	906	+			141					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.421G>C	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536852	0.45176	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.30448	3.15;3.15;1.53	1.31	1.31	0.21738	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49677	0.1571	M	0.76574	2.34	0.31042	N	0.716165	D;D	0.89917	1.0;1.0	D;D	0.71656	0.942;0.974	T	0.51647	-0.8679	9	0.54805	T	0.06	.	8.5292	0.33324	0.0:0.0:1.0:0.0	.	141;148	Q8N988;Q8N988-2	ZN557_HUMAN;.	R	148;148;141	ENSP00000252840:G148R;ENSP00000404065:G148R;ENSP00000398965:G141R	ENSP00000252840:G148R	G	+	1	0	ZNF557	7033904	.	.	0.002000	0.10522	0.012000	0.07955	.	.	1.045000	0.40225	0.305000	0.20034	GGA		PASS	0.373	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		39	104	39	104	---	---	---	---
ACTL9	284382	broad.mit.edu	37	19	8808393	8808393	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:8808393C>T	ENST00000324436.3	-	1	779	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	220						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R220H(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTCCAGACGCTCCGTGGC	0.682																																						uc002mkl.2																			2	Substitution - Missense(2)	p.R220H(1)	lung(1)|pancreas(1)	large_intestine(2)|pancreas(1)	3						c.(658-660)CGT>CAT		actin-like 9							43.0	42.0	43.0					19																	8808393		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808393C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.659G>A	19.37:g.8808393C>T	ENSP00000316674:p.Arg220His						p.R220H	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	780	-			220					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.659G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395959	0.83011	.	.	ENSG00000181786	ENST00000324436	D	0.94966	-3.57	4.55	4.55	0.56014	.	0.347064	0.21468	N	0.074058	D	0.95847	0.8648	L	0.59967	1.855	0.44188	D	0.997008	D	0.89917	1.0	D	0.73380	0.98	D	0.95434	0.8519	10	0.87932	D	0	.	10.8899	0.46990	0.0:0.9074:0.0:0.0926	.	220	Q8TC94	ACTL9_HUMAN	H	220	ENSP00000316674:R220H	ENSP00000316674:R220H	R	-	2	0	ACTL9	8669393	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.428000	0.66489	2.531000	0.85337	0.462000	0.41574	CGT		PASS	0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		27	53	27	53	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048969	9048969	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:9048969C>A	ENST00000397910.4	-	5	32865	c.32662G>T	c.(32662-32664)Gtg>Ttg	p.V10888L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10890	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.V10888L(1)|p.V6521L(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						GTACTGATCACTGCCCTAGAA	0.498																																						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.(32662-32664)GTG>TTG		mucin 16							109.0	98.0	102.0					19																	9048969		1922	4130	6052	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048969C>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.32662G>T	19.37:g.9048969C>A	ENSP00000381008:p.Val10888Leu						p.V10888L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32866	-			10890			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32662G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.511	0.654602	0.14580	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	3.21	0.857	0.19025	.	.	.	.	.	T	0.02848	0.0085	L	0.44542	1.39	.	.	.	B	0.29671	0.254	B	0.28385	0.089	T	0.32693	-0.9897	8	0.87932	D	0	.	3.5783	0.07942	0.0:0.574:0.2594:0.1667	.	10888	B5ME49	.	L	10888	ENSP00000381008:V10888L	ENSP00000381008:V10888L	V	-	1	0	MUC16	8909969	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.607000	0.05648	0.265000	0.21872	0.461000	0.40582	GTG		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	129	62	129	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071041	9071041	+	Missense_Mutation	SNP	G	G	A	rs374635390		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:9071041G>A	ENST00000397910.4	-	3	16608	c.16405C>T	c.(16405-16407)Cct>Tct	p.P5469S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5471	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.P5469S(2)|p.P1102S(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						GAGATATTAGGAGTTGATGTG	0.502																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16405-16407)CCT>TCT		mucin 16							140.0	137.0	138.0					19																	9071041		2026	4180	6206	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071041G>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.16405C>T	19.37:g.9071041G>A	ENSP00000381008:p.Pro5469Ser						p.P5469S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16609	-			5471			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16405C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.270	-0.149397	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.06	-4.12	0.03916	.	.	.	.	.	T	0.11750	0.0286	N	0.17082	0.46	.	.	.	B	0.15141	0.012	B	0.17098	0.017	T	0.31251	-0.9950	8	0.87932	D	0	.	1.0324	0.01541	0.1369:0.1897:0.2889:0.3845	.	5469	B5ME49	.	S	5469	ENSP00000381008:P5469S	ENSP00000381008:P5469S	P	-	1	0	MUC16	8932041	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.489000	0.00976	-0.838000	0.04218	-0.671000	0.03813	CCT		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		67	187	67	187	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155941	12155941	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:12155941A>G	ENST00000547628.1	-	4	412	c.275T>C	c.(274-276)cTg>cCg	p.L92P	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.L139P|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L92P(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCTTCTTCAGTGTGTCATC	0.423																																						uc002mta.1																			2	Substitution - Missense(2)		lung(2)		0						c.(415-417)CTG>CCG		zinc finger protein 878							56.0	53.0	54.0					19																	12155941		2025	4212	6237	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155941A>G		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.275T>C	19.37:g.12155941A>G	ENSP00000447931:p.Leu92Pro						p.L139P	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	416	-			92						Missense_Mutation	SNP	ENST00000547628.1	37	c.416T>C	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	7.281	0.609078	0.14066	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.08546	3.08	1.3	-2.6	0.06190	.	.	.	.	.	T	0.12135	0.0295	M	0.69358	2.11	0.09310	N	0.999999	D	0.57257	0.979	P	0.53722	0.733	T	0.05750	-1.0866	9	0.34782	T	0.22	.	0.3621	0.00366	0.236:0.2284:0.3075:0.2282	.	92	C9JN71	ZN878_HUMAN	P	92;139	ENSP00000447931:L92P	ENSP00000447931:L92P	L	-	2	0	AC022415.4;ZNF878	12016941	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.717000	0.01876	-1.518000	0.01778	-0.940000	0.02684	CTG		PASS	0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		22	35	22	35	---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16514640	16514640	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:16514640C>T	ENST00000248070.6	-	15	1669	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	EPS15L1_ENST00000602009.1_Silent_p.Q356Q|EPS15L1_ENST00000594975.1_Silent_p.Q510Q|EPS15L1_ENST00000535753.2_Silent_p.Q510Q|EPS15L1_ENST00000597937.1_Silent_p.Q510Q|EPS15L1_ENST00000455140.2_Silent_p.Q510Q	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	510					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q510Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGGTTTCCTCCTGCTGCAATC	0.512																																						uc002ndz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1528-1530)CAG>CAA		epidermal growth factor receptor pathway							155.0	132.0	140.0					19																	16514640		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16514640C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1530G>A	19.37:g.16514640C>T						EPS15L1_uc002ndx.2_Silent_p.Q510Q|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.Q400Q|EPS15L1_uc010xpf.1_Silent_p.Q413Q|EPS15L1_uc002nea.1_Silent_p.Q510Q|EPS15L1_uc010eah.1_Silent_p.Q510Q|EPS15L1_uc002neb.1_Silent_p.Q356Q|EPS15L1_uc002nec.1_Silent_p.Q510Q	p.Q510Q	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			15	1536	-			510					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1530G>A	CCDS32944.1																																																																																				PASS	0.512	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		46	129	46	129	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940575	22940575	+	Silent	SNP	T	T	C	rs554899706		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:22940575T>C	ENST00000596209.1	-	4	2226	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.K621K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	712					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.K621K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTAAAAGCTTTGCCACATT	0.378																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1861-1863)AAA>AAG		zinc finger protein 99							42.0	45.0	44.0					19																	22940575		2081	4217	6298	SO:0001819	synonymous_variant	7652							g.chr19:22940575T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2136A>G	19.37:g.22940575T>C							p.K621K	NM_001080409	NP_001073878					5	1863	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1863A>G	CCDS59369.1																																																																																				PASS	0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	161	3	161	---	---	---	---
CD22	933	broad.mit.edu	37	19	35823511	35823511	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:35823511C>T	ENST00000085219.5	+	3	162	c.96C>T	c.(94-96)ctC>ctT	p.L32L	CD22_ENST00000536635.2_Silent_p.L32L|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Silent_p.L32L|CD22_ENST00000595419.1_3'UTR|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000594250.1_Silent_p.L32L|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Silent_p.L32L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	32	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.L32L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGAAACCCTCTACGCCTGGG	0.502																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(94-96)CTC>CTT		CD22 molecule precursor	OspA lipoprotein(DB00045)						51.0	55.0	54.0					19																	35823511		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35823511C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.96C>T	19.37:g.35823511C>T						CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.L32L|CD22_uc010edv.2_Silent_p.L32L|CD22_uc002nzb.3_Silent_p.L32L	p.L32L	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	173	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		32			Extracellular (Potential).|Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.96C>T	CCDS12457.1																																																																																				PASS	0.502	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		33	97	33	97	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36050967	36050967	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:36050967G>T	ENST00000262623.3	-	7	824	c.796C>A	c.(796-798)Cag>Aag	p.Q266K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	266					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.Q266K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ACCAGGCCCTGCACGGTGCCT	0.652																																						uc002oal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)CAG>AAG		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						40.0	35.0	37.0					19																	36050967		2203	4299	6502	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050967G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.796C>A	19.37:g.36050967G>T	ENSP00000262623:p.Gln266Lys					ATP4A_uc010eee.1_5'Flank	p.Q266K	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	825	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		266			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.796C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306779	0.23821	.	.	ENSG00000105675	ENST00000262623	D	0.89681	-2.55	4.08	4.08	0.47627	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.619155	0.13739	N	0.366152	T	0.67878	0.2940	N	0.00788	-1.185	0.30953	N	0.724517	B	0.13145	0.007	B	0.19946	0.027	T	0.64076	-0.6492	10	0.14656	T	0.56	.	9.3991	0.38422	0.0:0.0:0.7873:0.2127	.	266	P20648	ATP4A_HUMAN	K	266	ENSP00000262623:Q266K	ENSP00000262623:Q266K	Q	-	1	0	ATP4A	40742807	0.103000	0.21917	0.927000	0.36925	0.501000	0.33797	2.469000	0.45110	2.278000	0.76064	0.556000	0.70494	CAG		PASS	0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		23	53	23	53	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36322217	36322217	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:36322217C>A	ENST00000378910.5	-	26	3367	c.3368G>T	c.(3367-3369)cGg>cTg	p.R1123L	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1083L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1123					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R1123L(1)|p.R1123Q(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAGTGTCCCGCTCTCCTGT	0.612																																						uc002oby.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|skin(1)	5						c.(3367-3369)CGG>CTG		nephrin precursor							88.0	81.0	83.0					19																	36322217		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322217C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3368G>T	19.37:g.36322217C>A	ENSP00000368190:p.Arg1123Leu					NPHS1_uc010eem.1_RNA	p.R1123L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		26	3368	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1123			Cytoplasmic (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3368G>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.386133	0.01194	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.76060	-0.99;-0.86	5.07	-0.945	0.10388	.	0.764374	0.12665	N	0.449249	T	0.52613	0.1745	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27773	-1.0064	10	0.18276	T	0.48	-10.0484	4.0308	0.09708	0.1536:0.48:0.0:0.3664	.	1123	O60500	NPHN_HUMAN	L	1123;1083	ENSP00000368190:R1123L;ENSP00000343634:R1083L	ENSP00000343634:R1083L	R	-	2	0	NPHS1	41014057	0.000000	0.05858	0.300000	0.25030	0.004000	0.04260	-1.225000	0.02956	-0.219000	0.10003	-0.860000	0.03012	CGG		PASS	0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			38	96	38	96	---	---	---	---
SYNE4	163183	broad.mit.edu	37	19	36499208	36499208	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:36499208C>T	ENST00000324444.3	-	2	301	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_Missense_Mutation_p.G64R|ALKBH6_ENST00000495116.2_5'Flank	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	64					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.G64R(1)									CCCCTTGGCCCACCCTGGAAG	0.657																																						uc002ocq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)GGG>AGG		hypothetical protein LOC163183							42.0	49.0	47.0					19																	36499208		1958	4134	6092	SO:0001583	missense	163183				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding	g.chr19:36499208C>T	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.190G>A	19.37:g.36499208C>T	ENSP00000316130:p.Gly64Arg					C19orf46_uc002ocr.1_Missense_Mutation_p.G64R|C19orf46_uc002ocs.1_Missense_Mutation_p.G64R|C19orf46_uc010een.1_Intron	p.G64R	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	279	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		64			Cytoplasmic (Potential).		A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.190G>A	CCDS42553.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469063	0.63625	.	.	ENSG00000181392	ENST00000340477;ENST00000324444;ENST00000490730	T;T;T	0.49720	1.44;1.45;0.77	4.22	2.12	0.27331	.	0.758999	0.13000	N	0.421739	T	0.56337	0.1978	M	0.63428	1.95	0.09310	N	1	B;D;B	0.63046	0.087;0.992;0.053	B;P;B	0.60609	0.063;0.877;0.028	T	0.39482	-0.9612	10	0.38643	T	0.18	-34.9333	6.3239	0.21232	0.0:0.7804:0.0:0.2196	.	64;64;64	Q8N205-2;D6RAE3;Q8N205	.;.;SYNE4_HUMAN	R	64	ENSP00000343152:G64R;ENSP00000316130:G64R;ENSP00000422716:G64R	ENSP00000316130:G64R	G	-	1	0	C19orf46	41191048	0.001000	0.12720	0.012000	0.15200	0.040000	0.13550	0.526000	0.22971	0.736000	0.32559	-0.140000	0.14226	GGG		PASS	0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		14	55	14	55	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39329235	39329235	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:39329235G>A	ENST00000221419.5	-	10	1725	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	AC104534.3_ENST00000594769.1_Missense_Mutation_p.S70F|HNRNPL_ENST00000600873.1_Silent_p.V320V	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	453	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.V453V(1)|p.V320V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTGCTTGGAGACACTGCAGC	0.537																																						uc010xul.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1357-1359)GTC>GTT		heterogeneous nuclear ribonucleoprotein L							51.0	42.0	45.0					19																	39329235		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39329235G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1359C>T	19.37:g.39329235G>A						HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.V109V|HNRNPL_uc002ojo.1_Silent_p.V31V|HNRNPL_uc002ojk.2_Silent_p.V109V|HNRNPL_uc002ojl.2_Silent_p.V109V|HNRNPL_uc010xum.1_Silent_p.V320V	p.V453V	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1370	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		453			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1359C>T	CCDS33015.1																																																																																				PASS	0.537	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			15	36	15	36	---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39805491	39805491	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:39805491G>A	ENST00000248668.4	-	1	485	c.486C>T	c.(484-486)tcC>tcT	p.S162S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	162						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S114S(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTCCACGGTGGACAGGAAGG	0.652																																						uc002okw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(484-486)TCC>TCT		leucine rich repeat and fibronectin type III							23.0	25.0	25.0					19																	39805491		2028	4179	6207	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805491G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.486C>T	19.37:g.39805491G>A							p.S162S	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	486	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		162			Extracellular (Potential).		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.486C>T	CCDS46071.1																																																																																				PASS	0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		5	13	5	13	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39847546	39847546	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:39847546G>A	ENST00000314471.6	+	5	1048	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000596368.1_Missense_Mutation_p.D5N|SAMD4B_ENST00000598913.1_Missense_Mutation_p.D5N	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D5N(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGTTCCGAGACCAGGTGGG	0.657																																						uc002olb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GAC>AAC		sterile alpha motif domain containing 4B							51.0	37.0	42.0					19																	39847546		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39847546G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.13G>A	19.37:g.39847546G>A	ENSP00000317224:p.Asp5Asn					SAMD4B_uc002ola.2_Missense_Mutation_p.D5N	p.D5N	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		5	1048	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		5					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.13G>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848140	0.97023	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	T	0.29397	1.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.77616	2.38	0.54753	D	0.999986	D;D	0.63880	0.993;0.993	D;D	0.69824	0.966;0.966	T	0.60601	-0.7231	10	0.87932	D	0	.	17.5946	0.88007	0.0:0.0:1.0:0.0	.	5;5	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	N	5	ENSP00000317224:D5N	ENSP00000317224:D5N	D	+	1	0	SAMD4B	44539386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.829000	0.99411	2.756000	0.94617	0.563000	0.77884	GAC		PASS	0.657	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		5	31	5	31	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41120238	41120238	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:41120238G>C	ENST00000308370.7	+	22	2899	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	LTBP4_ENST00000545697.1_Missense_Mutation_p.E420Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.E900Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.E65Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.E930Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	967	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E967Q(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAATGTCGCGAGCGAGGCCC	0.652																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2899-2901)GAG>CAG		latent transforming growth factor beta binding							37.0	41.0	40.0					19																	41120238		1985	4159	6144	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120238G>C	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2899G>C	19.37:g.41120238G>C	ENSP00000311905:p.Glu967Gln					LTBP4_uc002oog.1_Missense_Mutation_p.E930Q|LTBP4_uc002ooi.1_Missense_Mutation_p.E900Q|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E187Q|LTBP4_uc002ool.1_Missense_Mutation_p.E65Q|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.E967Q	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2899	+			967			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2899G>C		.	.	.	.	.	.	.	.	.	.	G	21.0	4.080015	0.76528	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.42	4.42	0.53409	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.40385	N	0.001101	D	0.90827	0.7119	N	0.12887	0.27	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.998;0.999;0.999	P;D;D;D;D	0.91635	0.87;0.998;0.998;0.999;0.999	D	0.88356	0.2984	10	0.16896	T	0.51	.	15.924	0.79597	0.0:0.0:1.0:0.0	.	65;187;900;967;930	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	Q	930;420;967;900;65	ENSP00000204005:E930Q;ENSP00000441054:E420Q;ENSP00000311905:E967Q;ENSP00000380031:E900Q;ENSP00000243562:E65Q	ENSP00000204005:E930Q	E	+	1	0	LTBP4	45812078	0.997000	0.39634	0.986000	0.45419	0.970000	0.65996	4.524000	0.60552	2.280000	0.76307	0.455000	0.32223	GAG		PASS	0.652	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		18	42	18	42	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41120242	41120242	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:41120242G>T	ENST00000308370.7	+	22	2903	c.2903G>T	c.(2902-2904)cGa>cTa	p.R968L	LTBP4_ENST00000545697.1_Missense_Mutation_p.R421L|LTBP4_ENST00000396819.3_Missense_Mutation_p.R901L|LTBP4_ENST00000243562.9_Missense_Mutation_p.R66L|LTBP4_ENST00000204005.9_Missense_Mutation_p.R931L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	968	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R968L(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTCGCGAGCGAGGCCCAGCC	0.662																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2902-2904)CGA>CTA		latent transforming growth factor beta binding							37.0	40.0	39.0					19																	41120242		1986	4158	6144	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120242G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2903G>T	19.37:g.41120242G>T	ENSP00000311905:p.Arg968Leu					LTBP4_uc002oog.1_Missense_Mutation_p.R931L|LTBP4_uc002ooi.1_Missense_Mutation_p.R901L|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.R188L|LTBP4_uc002ool.1_Missense_Mutation_p.R66L|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.R968L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2903	+			968			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2903G>T		.	.	.	.	.	.	.	.	.	.	G	13.01	2.108417	0.37242	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.91068	-2.16;-1.7;-2.16;-2.16;-2.78	4.42	1.1	0.20463	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.436821	0.16974	N	0.191978	D	0.84365	0.5456	N	0.04669	-0.19	0.23215	N	0.998105	B;D;P;P;D	0.64830	0.369;0.994;0.821;0.821;0.962	B;P;P;P;P	0.62885	0.045;0.795;0.757;0.681;0.908	T	0.75731	-0.3215	10	0.17832	T	0.49	.	7.7261	0.28761	0.3689:0.0:0.6311:0.0	.	66;188;901;968;931	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	L	931;421;968;901;66	ENSP00000204005:R931L;ENSP00000441054:R421L;ENSP00000311905:R968L;ENSP00000380031:R901L;ENSP00000243562:R66L	ENSP00000204005:R931L	R	+	2	0	LTBP4	45812082	0.410000	0.25376	0.982000	0.44146	0.926000	0.56050	1.197000	0.32211	0.140000	0.18849	-0.391000	0.06502	CGA		PASS	0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		18	40	18	40	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41120337	41120337	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:41120337G>A	ENST00000308370.7	+	22	2998	c.2998G>A	c.(2998-3000)Gag>Aag	p.E1000K	LTBP4_ENST00000545697.1_Missense_Mutation_p.E453K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E933K|LTBP4_ENST00000243562.9_Missense_Mutation_p.E98K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E963K|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1000	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E1000K(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCGGGCCCCGAGGGCACCTG	0.716																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2998-3000)GAG>AAG		latent transforming growth factor beta binding							16.0	20.0	19.0					19																	41120337		1964	4139	6103	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120337G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2998G>A	19.37:g.41120337G>A	ENSP00000311905:p.Glu1000Lys					LTBP4_uc002oog.1_Missense_Mutation_p.E963K|LTBP4_uc002ooi.1_Missense_Mutation_p.E933K|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E220K|LTBP4_uc002ool.1_Missense_Mutation_p.E98K|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.E1000K	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2998	+			1000			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2998G>A		.	.	.	.	.	.	.	.	.	.	G	26.6	4.753469	0.89753	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.92249	-2.23;-3.0;-2.23;-2.23;-2.82	4.42	4.42	0.53409	EGF-like calcium-binding (2);	0.000000	0.40469	N	0.001095	D	0.90642	0.7065	N	0.17345	0.48	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.999;0.996;0.987;0.989	P;D;D;P;P	0.80764	0.548;0.994;0.909;0.826;0.863	D	0.86556	0.1838	10	0.08837	T	0.75	.	14.5321	0.67934	0.0:0.0:1.0:0.0	.	98;220;933;1000;963	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	K	963;453;1000;933;98	ENSP00000204005:E963K;ENSP00000441054:E453K;ENSP00000311905:E1000K;ENSP00000380031:E933K;ENSP00000243562:E98K	ENSP00000204005:E963K	E	+	1	0	LTBP4	45812177	0.944000	0.32072	0.976000	0.42696	0.612000	0.37316	1.912000	0.39946	2.280000	0.76307	0.455000	0.32223	GAG		PASS	0.716	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		5	17	5	17	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41596057	41596057	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:41596057A>T	ENST00000330436.3	+	3	449	c.449A>T	c.(448-450)cAg>cTg	p.Q150L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	150					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Q150L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GAACGCATCCAGGAGGAGGCG	0.692																																						uc002opt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(448-450)CAG>CTG		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						32.0	33.0	33.0					19																	41596057		2203	4299	6502	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596057A>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.449A>T	19.37:g.41596057A>T	ENSP00000332679:p.Gln150Leu						p.Q150L	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			3	458	+			150					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.449A>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	8.967	0.972122	0.18736	.	.	ENSG00000197838	ENST00000330436	T	0.69175	-0.38	3.39	3.39	0.38822	.	0.000000	0.85682	U	0.000000	T	0.50650	0.1628	N	0.17631	0.505	0.28560	N	0.911183	B	0.21821	0.061	B	0.23716	0.048	T	0.53549	-0.8423	10	0.59425	D	0.04	.	11.2508	0.49024	1.0:0.0:0.0:0.0	.	150	Q16696	CP2AD_HUMAN	L	150	ENSP00000332679:Q150L	ENSP00000332679:Q150L	Q	+	2	0	CYP2A13	46287897	0.829000	0.29322	1.000000	0.80357	0.019000	0.09904	1.682000	0.37628	1.549000	0.49425	0.248000	0.18094	CAG		PASS	0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		18	75	18	75	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42752689	42752689	+	Silent	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:42752689G>C	ENST00000222329.4	-	4	1732	c.1575C>G	c.(1573-1575)ctC>ctG	p.L525L	ERF_ENST00000440177.2_Silent_p.L450L|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	525					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.L525L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GCCTTGGGGTGAGGGGCCCCC	0.711																																						uc002ote.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1573-1575)CTC>CTG		Ets2 repressor factor							19.0	25.0	23.0					19																	42752689		2200	4283	6483	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752689G>C	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1575C>G	19.37:g.42752689G>C						ERF_uc002otd.3_Silent_p.L256L	p.L525L	NM_006494	NP_006485	P50548	ERF_HUMAN			4	1733	-		Prostate(69;0.00682)	525					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.1575C>G	CCDS12600.1																																																																																				PASS	0.711	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		13	45	13	45	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933863	44933863	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:44933863G>C	ENST00000588931.1	-	6	1526	c.1093C>G	c.(1093-1095)Ctt>Gtt	p.L365V	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.L359V	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	365					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.L365V(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGATGAATAAGAAGAACCGAT	0.493																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1093-1095)CTT>GTT		zinc finger protein 229							98.0	102.0	100.0					19																	44933863		2085	4249	6334	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933863G>C	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1093C>G	19.37:g.44933863G>C	ENSP00000466519:p.Leu365Val					ZNF229_uc010ejk.1_Missense_Mutation_p.L19V|ZNF229_uc010ejl.1_Missense_Mutation_p.L359V	p.L365V	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1527	-		Prostate(69;0.0352)	365			C2H2-type 2.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1093C>G	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333073	0.41297	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.88	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.04994	-0.135	0.09310	N	1	P	0.42827	0.791	B	0.32393	0.145	T	0.09164	-1.0687	8	0.20519	T	0.43	.	2.6862	0.05108	0.1082:0.3172:0.4058:0.1689	.	365	Q9UJW7	ZN229_HUMAN	V	365	.	ENSP00000291187:L365V	L	-	1	0	ZNF229	49625703	0.000000	0.05858	0.005000	0.12908	0.960000	0.62799	-2.312000	0.01127	1.694000	0.51137	0.609000	0.83330	CTT		PASS	0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		69	219	69	219	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46328447	46328447	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:46328447C>T	ENST00000245934.7	-	18	2716	c.2472G>A	c.(2470-2472)ctG>ctA	p.L824L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L824L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAATGACCCTCAGCACCGTCC	0.647																																						uc002pdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2470-2472)CTG>CTA		symplekin							119.0	90.0	100.0					19																	46328447		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46328447C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2472G>A	19.37:g.46328447C>T						SYMPK_uc002pdo.1_Silent_p.L824L|SYMPK_uc002pdp.1_Silent_p.L824L	p.L824L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	18	2717	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	824					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2472G>A	CCDS12676.2																																																																																				PASS	0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		42	70	42	70	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51920496	51920497	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:51920496_51920497CC>AA	ENST00000339313.5	-	2	376_377	c.260_261GG>TT	c.(259-261)cGG>cTT	p.R87L	SIGLEC10_ENST00000353836.5_Missense_Mutation_p.R87L|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R87L|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R87L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R87L|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R87L|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R87L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R87L|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R87L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	87	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R87L(4)|p.R87R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAATCGGCCCCGGGTGCTCAT	0.574																																						uc002pwo.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	skin(1)	1						c.(259-261)CGG>CGT|c.(259-261)CGG>CTG		sialic acid binding Ig-like lectin 10 precursor																																				SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920496C>A|g.chr19:51920497C>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.260_261delinsAA	19.37:g.51920496_51920497delinsAA	ENSP00000345243:p.Arg87Leu					SIGLEC10_uc002pwp.2_Silent_p.R87R|SIGLEC10_uc002pwq.2_Silent_p.R87R|SIGLEC10_uc002pwr.2_Silent_p.R87R|SIGLEC10_uc010ycy.1_Silent_p.R87R|SIGLEC10_uc010ycz.1_Silent_p.R87R|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Silent_p.R71R|SIGLEC10_uc002pwp.2_Missense_Mutation_p.R87L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R87L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R87L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R87L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R87L|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.R71L	p.R87R|p.R87L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	877|876	-		all_neural(266;0.0199)	87			Extracellular (Potential).|Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent|Missense_Mutation	SNP	ENST00000339313.5	37	c.261G>T|c.260G>T	CCDS12832.1																																																																																				PASS	0.574	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		34|35	105	34	105	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618244	52618244	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:52618244C>A	ENST00000600228.1	-	4	2434	c.2173G>T	c.(2173-2175)Gcc>Tcc	p.A725S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	725					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.A725S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGCCCAAAGGCTTTGCCACAT	0.393																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)GCC>TCC		zinc finger protein 616							139.0	137.0	138.0					19																	52618244		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618244C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2173G>T	19.37:g.52618244C>A	ENSP00000471000:p.Ala725Ser					ZNF616_uc002pyn.2_RNA	p.A725S	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2456	-			725			C2H2-type 20.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2173G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549740	0.27652	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	-0.76	0.11041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	N	0.02275	-0.615	0.09310	N	1	P	0.46277	0.875	P	0.48654	0.585	T	0.11542	-1.0583	8	0.29301	T	0.29	.	4.2364	0.10627	0.446:0.3333:0.2206:0.0	.	725	Q08AN1	ZN616_HUMAN	S	725	.	ENSP00000328722:A725S	A	-	1	0	ZNF616	57310056	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.425000	0.00475	-0.307000	0.08804	0.484000	0.47621	GCC		PASS	0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		5	275	5	275	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959386	53959386	+	RNA	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:53959386G>C	ENST00000454407.1	+	0	2078							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.R488T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGCCATCGTAGACTTCATTCT	0.448																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1624-1626)AGA>ACA		zinc finger protein 761							101.0	100.0	100.0					19																	53959386		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959386G>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959386G>C						ZNF761_uc010ydy.1_Missense_Mutation_p.R488T|ZNF761_uc002qbt.1_Missense_Mutation_p.R488T	p.R542T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2083	+			542			C2H2-type 12.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1625G>C																																																																																					PASS	0.448	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		6	180	6	180	---	---	---	---
HSPBP1	23640	broad.mit.edu	37	19	55785929	55785929	+	Silent	SNP	C	C	A	rs141770023	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:55785929C>A	ENST00000255631.5	-	5	787	c.477G>T	c.(475-477)gcG>gcT	p.A159A	HSPBP1_ENST00000376343.3_Silent_p.A159A|HSPBP1_ENST00000587922.1_Silent_p.A159A|HSPBP1_ENST00000433386.2_Silent_p.A159A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	162					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.A159A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCGCAGTCCCGCAGCCCCCG	0.672																																						uc002qjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)GCG>GCT		hsp70-interacting protein							15.0	17.0	16.0					19																	55785929		2173	4235	6408	SO:0001819	synonymous_variant	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55785929C>A		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.477G>T	19.37:g.55785929C>A						HSPBP1_uc002qjy.2_Silent_p.A159A|HSPBP1_uc002qkb.2_Silent_p.A159A|HSPBP1_uc002qka.2_Silent_p.A159A|HSPBP1_uc002qkd.2_Silent_p.A159A|HSPBP1_uc002qkc.2_Silent_p.A159A	p.A205A	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	725	-			162			ARM 1.		B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	37	c.615G>T	CCDS33111.1																																																																																				PASS	0.672	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		8	20	8	20	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56600255	56600255	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:56600255A>T	ENST00000270459.3	-	3	404	c.286T>A	c.(286-288)Tgc>Agc	p.C96S		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	96					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.C96S(1)		central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGTCGGCGCAGGCGTTGGGC	0.677																																						uc010eth.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(286-288)TGC>AGC		zinc finger protein 787							16.0	18.0	17.0					19																	56600255		2200	4296	6496	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600255A>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.286T>A	19.37:g.56600255A>T	ENSP00000270459:p.Cys96Ser						p.C96S	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	405	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	96			C2H2-type 2.		O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.286T>A	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159450	0.78226	.	.	ENSG00000142409	ENST00000270459	T	0.59638	0.25	3.46	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82226	0.4991	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86232	0.1638	9	0.87932	D	0	-26.558	10.2017	0.43087	1.0:0.0:0.0:0.0	.	96	Q6DD87	ZN787_HUMAN	S	96	ENSP00000270459:C96S	ENSP00000270459:C96S	C	-	1	0	ZNF787	61292067	0.897000	0.30589	0.974000	0.42286	0.977000	0.68977	6.152000	0.71812	1.571000	0.49722	0.379000	0.24179	TGC		PASS	0.677	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		5	14	5	14	---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57966810	57966810	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr19:57966810G>T	ENST00000321039.3	-	1	1044	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	AC004076.9_ENST00000415705.3_5'Flank|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	349					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L349M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATGACAACCAGATTAGGAAAG	0.378																																						uc002qos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)CTG>ATG		vomeronasal 1 receptor 1							66.0	68.0	68.0					19																	57966810		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966810G>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.1045C>A	19.37:g.57966810G>T	ENSP00000322339:p.Leu349Met					ZNF547_uc002qpm.3_Intron	p.L349M	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	1045	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	349			Cytoplasmic (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.1045C>A	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092632	0.01858	.	.	ENSG00000178201	ENST00000321039	T	0.11604	2.76	1.91	-0.606	0.11619	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.32350	0.366	B	0.24269	0.052	T	0.36962	-0.9726	9	0.45353	T	0.12	.	2.209	0.03943	0.209:0.0:0.4983:0.2927	.	349	Q9GZP7	VN1R1_HUMAN	M	349	ENSP00000322339:L349M	ENSP00000322339:L349M	L	-	1	2	VN1R1	62658622	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.096000	0.11059	-0.051000	0.13334	-0.190000	0.12839	CTG		PASS	0.378	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		31	67	31	67	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9438113	9438113	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:9438113C>G	ENST00000378493.1	+	30	3028	c.3013C>G	c.(3013-3015)Ctg>Gtg	p.L1005V	PLCB4_ENST00000278655.4_Missense_Mutation_p.L1005V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L1005V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L1017V|PLCB4_ENST00000378501.2_Missense_Mutation_p.L1005V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L1017V|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1005					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L1005V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATTCAGACGCTGACATCAGA	0.348																																						uc002wnf.2																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(3013-3015)CTG>GTG		phospholipase C beta 4 isoform b							67.0	67.0	67.0					20																	9438113		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9438113C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3013C>G	20.37:g.9438113C>G	ENSP00000367754:p.Leu1005Val					PLCB4_uc010gbw.1_Missense_Mutation_p.L1005V|PLCB4_uc010gbx.2_Missense_Mutation_p.L1017V|PLCB4_uc002wne.2_Missense_Mutation_p.L1005V|PLCB4_uc002wnh.2_Missense_Mutation_p.L852V	p.L1005V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			32	3149	+			1005					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3013C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381477	0.24944	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.29397	2.05;2.08;1.57;1.57;2.05;1.9	4.9	0.175	0.15045	.	0.170204	0.39687	N	0.001291	T	0.41305	0.1153	M	0.61703	1.905	0.42605	D	0.993298	B;B;P;B	0.52842	0.144;0.014;0.956;0.08	B;B;P;B	0.62184	0.036;0.014;0.899;0.045	T	0.26849	-1.0091	10	0.20519	T	0.43	.	8.9859	0.35994	0.0:0.5564:0.0:0.4435	.	1017;852;1005;1005	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	1005;1017;1005;1005;1005;853	ENSP00000334105:L1005V;ENSP00000367734:L1017V;ENSP00000278655:L1005V;ENSP00000367754:L1005V;ENSP00000367762:L1005V;ENSP00000390616:L853V	ENSP00000278655:L1005V	L	+	1	2	PLCB4	9386113	0.006000	0.16342	0.781000	0.31783	0.988000	0.76386	0.055000	0.14229	0.224000	0.20940	0.655000	0.94253	CTG		PASS	0.348	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			40	129	40	129	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13869147	13869147	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:13869147A>C	ENST00000284951.5	-	6	635	c.561T>G	c.(559-561)ttT>ttG	p.F187L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F187L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	187						integral component of membrane (GO:0016021)		p.F187L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGAAGACAAAAATCCTAATG	0.284																																						uc010gcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(559-561)TTT>TTG		sel-1 suppressor of lin-12-like 2 precursor							48.0	43.0	45.0					20																	13869147		1802	4055	5857	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13869147A>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.561T>G	20.37:g.13869147A>C	ENSP00000284951:p.Phe187Leu					SEL1L2_uc002woq.3_Missense_Mutation_p.F48L|SEL1L2_uc010zrl.1_Missense_Mutation_p.F187L|SEL1L2_uc002wor.2_RNA	p.F187L	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			6	643	-			187			Extracellular (Potential).|Sel1-like 3.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.561T>G		.	.	.	.	.	.	.	.	.	.	A	18.55	3.648080	0.67358	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.43294	0.95;0.95	5.7	4.61	0.57282	Tetratricopeptide-like helical (1);	0.488597	0.20958	N	0.082604	T	0.52565	0.1742	L	0.45470	1.425	0.41700	D	0.989399	P;D	0.63046	0.872;0.992	P;D	0.76071	0.801;0.987	T	0.46442	-0.9191	10	0.31617	T	0.26	-1.2339	8.4313	0.32759	0.9121:0.0:0.0879:0.0	.	187;187	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	187	ENSP00000367312:F187L;ENSP00000284951:F187L	ENSP00000284951:F187L	F	-	3	2	SEL1L2	13817147	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.309000	0.51903	1.013000	0.39391	-0.256000	0.11100	TTT		PASS	0.284	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		16	48	16	48	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16492131	16492131	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:16492131C>A	ENST00000354981.2	-	6	645	c.488G>T	c.(487-489)cGg>cTg	p.R163L	KIF16B_ENST00000355755.3_Missense_Mutation_p.R163L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R163L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	163	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R163L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGACTTCCGCCGAAGTAGATC	0.333																																						uc002wpg.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(487-489)CGG>CTG		kinesin-like motor protein C20orf23							79.0	77.0	78.0					20																	16492131		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16492131C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.488G>T	20.37:g.16492131C>A	ENSP00000347076:p.Arg163Leu					KIF16B_uc010gch.1_Missense_Mutation_p.R163L|KIF16B_uc010gci.1_Missense_Mutation_p.R163L|KIF16B_uc010gcj.1_Missense_Mutation_p.R163L	p.R163L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			6	646	-			163			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.488G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154361	0.94686	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75050	-0.9;-0.9;-0.9	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.979;0.984;0.991	T	0.83156	-0.0101	10	0.72032	D	0.01	.	17.8742	0.88819	0.0:1.0:0.0:0.0	.	163;163;163;163	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	L	163	ENSP00000347076:R163L;ENSP00000347995:R163L;ENSP00000384164:R163L	ENSP00000347076:R163L	R	-	2	0	KIF16B	16440131	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.780000	0.68956	2.665000	0.90641	0.655000	0.94253	CGG		PASS	0.333	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		57	129	57	129	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17587741	17587741	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:17587741G>A	ENST00000246069.7	+	4	794	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	DSTN_ENST00000474024.1_Missense_Mutation_p.E133K	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	150	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.E150K(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTGTATTGCTGAAAAGTTAGG	0.373																																						uc002wpr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(448-450)GAA>AAA		destrin isoform a							143.0	129.0	134.0					20																	17587741		2203	4300	6503	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17587741G>A	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.448G>A	20.37:g.17587741G>A	ENSP00000246069:p.Glu150Lys					DSTN_uc002wpq.2_Missense_Mutation_p.E133K|DSTN_uc010gck.2_Missense_Mutation_p.E133K	p.E150K	NM_006870	NP_006861	P60981	DEST_HUMAN			4	703	+			150			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.448G>A	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314091	0.81358	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.34275	1.37;1.37	6.02	6.02	0.97574	Actin-binding, cofilin/tropomyosin type (3);	0.095971	0.64402	D	0.000001	T	0.42268	0.1195	M	0.64260	1.97	0.58432	D	0.999999	B	0.19331	0.035	B	0.17722	0.019	T	0.23691	-1.0181	10	0.72032	D	0.01	-27.1923	19.5289	0.95219	0.0:0.0:1.0:0.0	.	150	P60981	DEST_HUMAN	K	150;133	ENSP00000246069:E150K;ENSP00000444808:E133K	ENSP00000246069:E150K	E	+	1	0	DSTN	17535741	1.000000	0.71417	0.993000	0.49108	0.869000	0.49853	8.443000	0.90320	2.865000	0.98341	0.655000	0.94253	GAA		PASS	0.373	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		5	228	5	228	---	---	---	---
COMMD7	149951	broad.mit.edu	37	20	31291229	31291229	+	Silent	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:31291229C>A	ENST00000278980.6	-	9	1163	c.558G>T	c.(556-558)ctG>ctT	p.L186L	COMMD7_ENST00000446419.2_Silent_p.L185L	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	186	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.L186L(1)		breast(1)|endometrium(1)|lung(3)	5						CCATCTCGTGCAGGAAGCTGT	0.493																																						uc002wya.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(556-558)CTG>CTT		COMM domain containing 7 isoform 1							87.0	91.0	90.0					20																	31291229		1928	4130	6058	SO:0001819	synonymous_variant	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31291229C>A	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.558G>T	20.37:g.31291229C>A						COMMD7_uc010ged.2_Silent_p.L185L|COMMD7_uc002wyb.2_3'UTR	p.L186L	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN			9	1175	-			186			COMM.		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	c.558G>T	CCDS42864.1																																																																																				PASS	0.493	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		21	71	21	71	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31577456	31577456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:31577456C>A	ENST00000356173.3	-	9	675	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	SUN5_ENST00000375523.3_Nonsense_Mutation_p.E170*	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	195					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E195*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCTGGCTTTTCGATGTAATCT	0.488																																						uc002wyi.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(583-585)GAA>TAA		sperm associated antigen 4-like							242.0	184.0	204.0					20																	31577456		2203	4300	6503	SO:0001587	stop_gained	140732				spermatogenesis			g.chr20:31577456C>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.583G>T	20.37:g.31577456C>A	ENSP00000348496:p.Glu195*						p.E195*	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			9	676	-			195					A6NJ82|Q5T9R0	Nonsense_Mutation	SNP	ENST00000356173.3	37	c.583G>T	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301217	0.81136	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	.	.	.	5.75	5.75	0.90469	.	0.222739	0.37178	N	0.002206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-23.5854	15.4377	0.75160	0.0:1.0:0.0:0.0	.	.	.	.	X	195;170	.	ENSP00000348496:E195X	E	-	1	0	SUN5	31041117	0.983000	0.35010	0.942000	0.38095	0.320000	0.28249	2.683000	0.46943	2.711000	0.92665	0.655000	0.94253	GAA		PASS	0.488	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		16	61	16	61	---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42271136	42271136	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:42271136G>A	ENST00000373030.3	+	13	1268	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Missense_Mutation_p.E380K	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	380					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.E380K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGAAGACCTGGAATTTTATGT	0.413																																						uc002xkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)GAA>AAA		intraflagellar transport 52 homolog							128.0	117.0	121.0					20																	42271136		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271136G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1138G>A	20.37:g.42271136G>A	ENSP00000362121:p.Glu380Lys					IFT52_uc002xky.2_Missense_Mutation_p.E380K|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.E356K|IFT52_uc002xkz.2_Intron	p.E380K	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1260	+		Myeloproliferative disorder(115;0.00452)	380					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.1138G>A	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000390	0.93227	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87832	0.2645	9	0.54805	T	0.06	-21.1395	18.2537	0.90012	0.0:0.0:1.0:0.0	.	380	Q9Y366	IFT52_HUMAN	K	380	.	ENSP00000362121:E380K	E	+	1	0	IFT52	41704550	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.716000	0.98752	2.682000	0.91365	0.650000	0.86243	GAA		PASS	0.413	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		37	115	37	115	---	---	---	---
CTSA	5476	broad.mit.edu	37	20	44521454	44521454	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:44521454T>G	ENST00000372459.2	+	5	728	c.535T>G	c.(535-537)Tat>Gat	p.Y179D	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Missense_Mutation_p.Y197D|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Missense_Mutation_p.Y179D|CTSA_ENST00000354880.5_Missense_Mutation_p.Y180D			P10619	PPGB_HUMAN	cathepsin A	179					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.Y197D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CGGGGAGAGCTATGCTGGCAT	0.562																																						uc002xqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)TAT>GAT		cathepsin A isoform b precursor							67.0	67.0	67.0					20																	44521454		2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44521454T>G	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.535T>G	20.37:g.44521454T>G	ENSP00000361537:p.Tyr179Asp					NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Missense_Mutation_p.Y197D|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.Y180D|CTSA_uc002xqk.3_Missense_Mutation_p.Y179D	p.Y179D	NM_001127695	NP_001121167	P10619	PPGB_HUMAN			6	1009	+		Myeloproliferative disorder(115;0.0122)	179					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.535T>G	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777685	0.90195	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99047	1.0826	10	0.87932	D	0	-11.5996	15.1015	0.72279	0.0:0.0:0.0:1.0	.	179;179;196	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	D	180;197;179;162;179	ENSP00000346952:Y180D;ENSP00000361562:Y197D;ENSP00000191018:Y179D;ENSP00000408533:Y162D;ENSP00000361537:Y179D	ENSP00000191018:Y179D	Y	+	1	0	CTSA	43954861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.019000	0.88732	1.970000	0.57323	0.533000	0.62120	TAT		PASS	0.562	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		35	69	35	69	---	---	---	---
STX16	8675	broad.mit.edu	37	20	57251323	57251323	+	Silent	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:57251323C>G	ENST00000371141.4	+	9	1678	c.954C>G	c.(952-954)gtC>gtG	p.V318V	STX16_ENST00000355957.5_Silent_p.V301V|STX16_ENST00000361770.5_Silent_p.V301V|STX16_ENST00000359617.4_Silent_p.V265V|STX16_ENST00000358029.4_Silent_p.V314V|STX16_ENST00000361830.3_Silent_p.V318V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Silent_p.V297V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	318					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.V297V(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCATTGTTGTCCTCGTTGGCG	0.493																																						uc002xzi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(952-954)GTC>GTG		syntaxin 16 isoform a							258.0	231.0	240.0					20																	57251323		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251323C>G	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.954C>G	20.37:g.57251323C>G						STX16_uc010zzq.1_Silent_p.V132V|STX16_uc002xzk.2_Silent_p.V301V|STX16_uc002xzm.2_Silent_p.V314V|STX16_uc002xzj.2_Silent_p.V297V|STX16_uc002xzl.2_Silent_p.V132V	p.V318V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1689	+	all_lung(29;0.0175)		318			Helical; Anchor for type IV membrane protein; (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.954C>G	CCDS13468.1																																																																																				PASS	0.493	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		64	109	64	109	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61936824	61936824	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr20:61936824G>T	ENST00000358894.6	+	4	349	c.249G>T	c.(247-249)ggG>ggT	p.G83G	COL20A1_ENST00000326996.6_Silent_p.G83G|COL20A1_ENST00000422202.1_Silent_p.G83G|COL20A1_ENST00000435874.1_Silent_p.G83G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	83	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.G83G(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCACAGTGGGGGGCCTGAGCC	0.612																																						uc011aau.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(247-249)GGG>GGT		collagen, type XX, alpha 1							36.0	39.0	38.0					20																	61936824		1929	4116	6045	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61936824G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.249G>T	20.37:g.61936824G>T						COL20A1_uc011aav.1_5'Flank	p.G83G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			4	349	+	all_cancers(38;1.39e-10)		83			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.249G>T	CCDS46628.1																																																																																				PASS	0.612	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	20	3	20	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	42064818	42064818	+	Silent	SNP	G	G	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr21:42064818G>T	ENST00000400454.1	-	3	903	c.426C>A	c.(424-426)gtC>gtA	p.V142V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	142	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V142V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCACTTGAAGACCGCAACAT	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(424-426)GTC>GTA		Down syndrome cell adhesion molecule isoform							153.0	147.0	149.0					21																	42064818		2029	4175	6204	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064818G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.426C>A	21.37:g.42064818G>T						DSCAM_uc002yyr.1_RNA	p.V142V	NM_001389	NP_001380	O60469	DSCAM_HUMAN			3	878	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	142			Ig-like C2-type 2.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.426C>A	CCDS42929.1																																																																																				PASS	0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		72	62	72	62	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22316909	22316909	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:22316909C>A	ENST00000398793.2	-	13	1851	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C	TOP3B_ENST00000413067.2_Missense_Mutation_p.G202C|TOP3B_ENST00000357179.5_Missense_Mutation_p.G473C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	473					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.G473C(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAGGCATCACCCCGCTGGCAA	0.642																																						uc002zvs.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(1417-1419)GGT>TGT		topoisomerase (DNA) III beta							64.0	56.0	59.0					22																	22316909		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316909C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1417G>T	22.37:g.22316909C>A	ENSP00000381773:p.Gly473Cys					TOP3B_uc010gtm.1_Missense_Mutation_p.G18C|TOP3B_uc002zvr.2_Missense_Mutation_p.G198C|TOP3B_uc010gtl.2_Missense_Mutation_p.G473C|TOP3B_uc002zvt.3_Missense_Mutation_p.G473C	p.G473C	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1852	-	Colorectal(54;0.105)		473					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1417G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065110	0.76187	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.32272	1.46;1.46;1.46	5.12	5.12	0.69794	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.85217	0.1024	10	0.87932	D	0	.	18.5601	0.91097	0.0:1.0:0.0:0.0	.	18;473;473	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	C	473;473;202	ENSP00000349705:G473C;ENSP00000381773:G473C;ENSP00000393118:G202C	ENSP00000349705:G473C	G	-	1	0	TOP3B	20646909	1.000000	0.71417	0.958000	0.39756	0.377000	0.30045	7.446000	0.80609	2.368000	0.80403	0.563000	0.77884	GGT		PASS	0.642	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		29	68	29	68	---	---	---	---
IGLV8-61	28774	broad.mit.edu	37	22	22453448	22453448	+	RNA	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:22453448C>A	ENST00000390283.2	+	0	240									immunoglobulin lambda variable 8-61																		TACCAGCAGACCCCAGGCCAG	0.577																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							118.0	124.0	122.0					22																	22453448		2018	4168	6186			96610							g.chr22:22453448C>A	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453448C>A														7		+									RNA	SNP	ENST00000390283.2	37	c.581C>A																																																																																					PASS	0.577	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		43	132	43	132	---	---	---	---
SPECC1L	23384	broad.mit.edu	37	22	24718188	24718188	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:24718188C>T	ENST00000314328.9	+	5	1525	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.L414F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.L414F|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.L414F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	414					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.L414F(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGTGAGGAACTCCAGGCAAC	0.502																																						uc002zzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1240-1242)CTC>TTC		cytospin A							76.0	79.0	78.0					22																	24718188		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24718188C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1240C>T	22.37:g.24718188C>T	ENSP00000325785:p.Leu414Phe					CYTSA_uc002zzv.3_Missense_Mutation_p.L414F|CYTSA_uc011ajq.1_Missense_Mutation_p.L414F	p.L414F	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1547	+			414			Potential.		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.1240C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347094	0.82022	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.34825	-0.9813	10	0.72032	D	0.01	-14.8091	18.4799	0.90808	0.0:1.0:0.0:0.0	.	414;414	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	F	442;414;414;414;414	ENSP00000393363:L414F;ENSP00000405671:L414F;ENSP00000325785:L414F;ENSP00000439633:L414F	ENSP00000325785:L414F	L	+	1	0	SPECC1L	23048188	1.000000	0.71417	0.782000	0.31804	0.973000	0.67179	7.605000	0.82844	2.697000	0.92050	0.491000	0.48974	CTC		PASS	0.502	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		52	88	52	88	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31722878	31722878	+	Nonstop_Mutation	SNP	C	C	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:31722878C>G	ENST00000266269.5	-	5	2692	c.2063G>C	c.(2062-2064)tGa>tCa	p.*688S	PATZ1_ENST00000351933.4_Nonstop_Mutation_p.*642S|PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	0					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.*688S(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCAGCTGCCTCATTTCCCTTC	0.527																																						uc003akq.2																		EWSR1/PATZ1(2)	1	Nonstop extension(1)		lung(1)	soft_tissue(2)	2						c.(2062-2064)TGA>TCA		POZ (BTB) and AT hook containing zinc finger 1							33.0	32.0	32.0					22																	31722878		2203	4300	6503	SO:0001578	stop_lost	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31722878C>G	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.2063G>C	22.37:g.31722878C>G						PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Nonstop_Mutation_p.*642S	p.*688S	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			5	2724	-			688					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Nonstop_Mutation	SNP	ENST00000266269.5	37	c.2063G>C	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098572	0.37048	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2442	0.48987	0.0:0.916:0.0:0.084	.	.	.	.	S	688;642	.	.	X	-	2	2	PATZ1	30052878	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.433000	0.52834	2.429000	0.82318	0.484000	0.47621	TGA		PASS	0.527	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		25	47	25	47	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917481	39917481	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:39917481G>C	ENST00000337304.2	+	1	913	c.31G>C	c.(31-33)Gtg>Ctg	p.V11L	ATF4_ENST00000396680.1_Missense_Mutation_p.V11L|ATF4_ENST00000404241.2_Missense_Mutation_p.V11L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V11L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GAGCAGCGAGGTGTTGGTGGG	0.527																																						uc003axz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GTG>CTG		activating transcription factor 4							71.0	69.0	70.0					22																	39917481		2203	4300	6503	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917481G>C	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.31G>C	22.37:g.39917481G>C	ENSP00000336790:p.Val11Leu					ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.2_Missense_Mutation_p.V11L	p.V11L	NM_182810	NP_877962	P18848	ATF4_HUMAN			2	311	+	Melanoma(58;0.04)		11					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.31G>C	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449820	0.43531	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.37058	1.22;1.22;1.22	4.65	1.26	0.21427	.	0.478199	0.22335	N	0.061417	T	0.22627	0.0546	L	0.43152	1.355	0.32319	N	0.562627	B	0.06786	0.001	B	0.08055	0.003	T	0.34030	-0.9845	10	0.87932	D	0	-0.849	0.2856	0.00251	0.2393:0.2329:0.2928:0.235	.	11	P18848	ATF4_HUMAN	L	11	ENSP00000384587:V11L;ENSP00000336790:V11L;ENSP00000379912:V11L	ENSP00000336790:V11L	V	+	1	0	ATF4	38247427	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.060000	0.41394	2.127000	0.65507	0.561000	0.74099	GTG		PASS	0.527	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		38	177	38	177	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42607698	42607698	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr22:42607698C>T	ENST00000359486.3	-	1	3750	c.3614G>A	c.(3613-3615)gGa>gAa	p.G1205E	TCF20_ENST00000335626.4_Missense_Mutation_p.G1205E|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G1205E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTGGACATTCCTGGAGGACC	0.493																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3613-3615)GGA>GAA		transcription factor 20 isoform 1							88.0	83.0	85.0					22																	42607698		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607698C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3614G>A	22.37:g.42607698C>T	ENSP00000352463:p.Gly1205Glu					TCF20_uc003bck.1_Missense_Mutation_p.G1205E|TCF20_uc003bnt.2_Missense_Mutation_p.G1205E	p.G1205E	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3748	-			1205					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3614G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863501	0.71949	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59224	0.29;0.28	5.34	5.34	0.76211	.	0.090061	0.48286	D	0.000200	T	0.61362	0.2341	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.946	T	0.62572	-0.6826	10	0.49607	T	0.09	-13.4808	14.1147	0.65146	0.15:0.8499:0.0:0.0	.	1205;1205	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	E	1205	ENSP00000352463:G1205E;ENSP00000335561:G1205E	ENSP00000335561:G1205E	G	-	2	0	TCF20	40937642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.788000	0.47806	2.776000	0.95493	0.650000	0.86243	GGA		PASS	0.493	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		48	75	48	75	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31196890	31196890	+	Silent	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:31196890G>A	ENST00000357033.4	-	70	10325	c.10119C>T	c.(10117-10119)gcC>gcT	p.A3373A	DMD_ENST00000378707.3_Silent_p.A913A|DMD_ENST00000378677.2_Silent_p.A3369A|DMD_ENST00000541735.1_Silent_p.A913A|DMD_ENST00000378680.2_Silent_p.A305A|DMD_ENST00000343523.2_Silent_p.A913A|DMD_ENST00000361471.4_Silent_p.A305A|DMD_ENST00000378702.4_Silent_p.A305A|DMD_ENST00000378723.3_Silent_p.A305A|DMD_ENST00000359836.1_Silent_p.A913A|DMD_ENST00000474231.1_Silent_p.A913A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3373	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A3368A(1)|p.A305A(1)|p.A2032A(1)|p.A3373A(1)|p.A3369A(1)|p.A913A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAGTACCTTGGCAAAGTCTC	0.438																																						uc004dda.1																			6	Substitution - coding silent(6)		lung(6)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10117-10119)GCC>GCT		dystrophin Dp427m isoform							132.0	113.0	120.0					X																	31196890		2202	4299	6501	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31196890G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10119C>T	X.37:g.31196890G>A						DMD_uc004dcq.1_Silent_p.A644A|DMD_uc004dcr.1_Silent_p.A913A|DMD_uc004dcs.1_Silent_p.A913A|DMD_uc004dct.1_Silent_p.A913A|DMD_uc004dcu.1_Silent_p.A913A|DMD_uc004dcv.1_Silent_p.A913A|DMD_uc004dcw.2_Silent_p.A2029A|DMD_uc004dcx.2_Silent_p.A2032A|DMD_uc004dcz.2_Silent_p.A3250A|DMD_uc004dcy.1_Silent_p.A3369A|DMD_uc004ddb.1_Silent_p.A3365A|DMD_uc004dcm.1_Silent_p.A305A|DMD_uc004dcn.1_Silent_p.A305A|DMD_uc004dco.1_Silent_p.A305A|DMD_uc004dcp.1_Silent_p.A305A|DMD_uc011mkb.1_Silent_p.A305A|DMD_uc010ngm.2_Silent_p.A305A	p.A3373A	NM_004006	NP_003997	P11532	DMD_HUMAN			70	10363	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3373			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.10119C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101412	0.20632	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.45	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9149	0.41427	0.0741:0.0:0.7885:0.1375	.	.	.	.	X	1102	.	.	Q	-	1	0	DMD	31106811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.975000	0.70475	1.277000	0.44412	0.600000	0.82982	CAA		PASS	0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		67	42	67	42	---	---	---	---
EFHC2	80258	broad.mit.edu	37	X	44109544	44109544	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:44109544G>A	ENST00000420999.1	-	5	837	c.754C>T	c.(754-756)Cat>Tat	p.H252Y		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	252	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.H252Y(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AAGAAGTAATGCAGGATGAGT	0.443																																						uc004dgb.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)	6						c.(754-756)CAT>TAT		EF-hand domain (C-terminal) containing 2							82.0	71.0	75.0					X																	44109544		1939	4133	6072	SO:0001583	missense	80258						calcium ion binding	g.chrX:44109544G>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.754C>T	X.37:g.44109544G>A	ENSP00000404232:p.His252Tyr						p.H252Y	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			6	844	-			252			DM10 2.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.754C>T	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.900848|1.900848	0.33535|0.33535	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000441230|ENST00000333807;ENST00000420999;ENST00000378056	.|T;T	.|0.41065	.|1.01;1.01	5.8|5.8	4.94|4.94	0.65067|0.65067	.|Uncharacterised domain DM10 (2);	.|0.104774	.|0.64402	.|D	.|0.000004	T|T	0.46425|0.46425	0.1392|0.1392	M|M	0.70275|0.70275	2.135|2.135	0.42479|0.42479	D|D	0.99285|0.99285	.|P	.|0.44044	.|0.825	.|P	.|0.46299	.|0.511	T|T	0.40117|0.40117	-0.9580|-0.9580	5|10	.|0.22706	.|T	.|0.39	-8.7831|-8.7831	10.3473|10.3473	0.43913|0.43913	0.1536:0.0:0.8464:0.0|0.1536:0.0:0.8464:0.0	.|.	.|252	.|Q5JST6	.|EFHC2_HUMAN	V|Y	232|252;280;56	.|ENSP00000333823:H252Y;ENSP00000404232:H280Y	.|ENSP00000333823:H252Y	A|H	-|-	2|1	0|0	EFHC2|EFHC2	43994488|43994488	1.000000|1.000000	0.71417|0.71417	0.034000|0.034000	0.17996|0.17996	0.044000|0.044000	0.14063|0.14063	4.844000|4.844000	0.62846|0.62846	1.204000|1.204000	0.43247|0.43247	0.600000|0.600000	0.82982|0.82982	GCA|CAT		PASS	0.443	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		24	22	24	22	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49075166	49075166	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:49075166C>T	ENST00000376265.2	-	23	2856	c.2795G>A	c.(2794-2796)cGc>cAc	p.R932H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R867H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R921H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	932					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R932H(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGGAGCCGCGGTGCAGGAA	0.587																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2794-2796)CGC>CAC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						27.0	21.0	23.0					X																	49075166		2202	4298	6500	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49075166C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2795G>A	X.37:g.49075166C>T	ENSP00000365441:p.Arg932His					CACNA1F_uc010nip.2_Missense_Mutation_p.R921H	p.R932H	NM_005183	NP_005174	O60840	CAC1F_HUMAN			23	2857	-			932			III.|Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2795G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.554104	0.65425	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97831	-4.56;-4.56;-4.56	5.17	2.18	0.27775	Ion transport (1);	0.791340	0.11688	N	0.539178	D	0.95840	0.8646	L	0.28344	0.845	0.27169	N	0.960951	P;P	0.48764	0.771;0.915	B;P	0.53266	0.201;0.722	D	0.90523	0.4490	10	0.72032	D	0.01	.	6.7137	0.23292	0.0:0.4805:0.0:0.5195	.	921;932	F5CIQ9;O60840	.;CAC1F_HUMAN	H	867;921;932	ENSP00000365427:R867H;ENSP00000321618:R921H;ENSP00000365441:R932H	ENSP00000321618:R921H	R	-	2	0	CACNA1F	48962110	0.062000	0.20869	0.608000	0.28969	0.992000	0.81027	0.309000	0.19332	0.303000	0.22785	0.529000	0.55759	CGC		PASS	0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		4	4	4	4	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50054016	50054016	+	Silent	SNP	A	A	G			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000276014.7_Silent_p.L949L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483																																						uc004dox.3																			5	Substitution - coding silent(5)		prostate(3)|lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2845-2847)TTA>TTG		cyclin B3 isoform 3							87.0	82.0	84.0					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2847A>G	X.37:g.50054016A>G						CCNB3_uc004doy.2_Silent_p.L949L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.L949L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				PASS	0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			3	134	3	134	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54565513	54565513	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:54565513G>C	ENST00000336470.4	+	3	199	c.60G>C	c.(58-60)aaG>aaC	p.K20N	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.K20N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	20	Required for nucleolar localization.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K20N(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCCACAAGAAGATAAGTTGGC	0.433																																						uc004dth.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(58-60)AAG>AAC		guanine nucleotide binding protein-like 3							70.0	55.0	60.0					X																	54565513		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54565513G>C	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.60G>C	X.37:g.54565513G>C	ENSP00000338573:p.Lys20Asn					GNL3L_uc004dti.2_RNA	p.K20N	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			3	199	+			20	KK->AA: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35.		Required for nucleolar localization.			Missense_Mutation	SNP	ENST00000336470.4	37	c.60G>C	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219173	0.22373	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.22336	1.96;1.96	4.03	4.03	0.46877	.	0.364756	0.28146	N	0.016423	T	0.30008	0.0751	L	0.27053	0.805	0.37368	D	0.911527	D	0.57899	0.981	D	0.69824	0.966	T	0.18713	-1.0328	10	0.87932	D	0	-12.9404	10.5338	0.44992	0.0:0.0:1.0:0.0	.	20	Q9NVN8	GNL3L_HUMAN	N	20	ENSP00000338573:K20N;ENSP00000354091:K20N	ENSP00000338573:K20N	K	+	3	2	GNL3L	54582238	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.376000	0.44292	2.245000	0.73994	0.594000	0.82650	AAG		PASS	0.433	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	7	10	7	---	---	---	---
MORF4L2	9643	broad.mit.edu	37	X	102931645	102931645	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:102931645C>A	ENST00000441076.2	-	4	615	c.311G>T	c.(310-312)cGg>cTg	p.R104L	MORF4L2_ENST00000433176.2_Missense_Mutation_p.R104L|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R104L|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R104L|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R104L|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R104L	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	104					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R104L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GGGGTCTGCCCGGGCCCTTTT	0.507																																						uc004ekw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CGG>CTG		mortality factor 4 like 2							70.0	79.0	76.0					X																	102931645		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931645C>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.311G>T	X.37:g.102931645C>A	ENSP00000391969:p.Arg104Leu					MORF4L2_uc004ela.2_Missense_Mutation_p.R104L|MORF4L2_uc004ekx.2_Missense_Mutation_p.R104L|MORF4L2_uc004elb.2_Missense_Mutation_p.R104L|MORF4L2_uc004eky.2_Missense_Mutation_p.R104L|MORF4L2_uc010nos.2_Missense_Mutation_p.R104L|MORF4L2_uc004ekz.2_Missense_Mutation_p.R104L|MORF4L2_uc011mry.1_Missense_Mutation_p.R104L|MORF4L2_uc011mrz.1_Missense_Mutation_p.R104L|MORF4L2_uc004elc.2_Missense_Mutation_p.R104L|MORF4L2_uc004elf.2_Missense_Mutation_p.R104L|MORF4L2_uc004ele.2_Missense_Mutation_p.R104L|MORF4L2_uc011msa.1_Missense_Mutation_p.R104L|MORF4L2_uc011msb.1_Missense_Mutation_p.R104L|MORF4L2_uc011msc.1_Missense_Mutation_p.R104L|MORF4L2_uc011msd.1_Missense_Mutation_p.R104L|MORF4L2_uc004eld.2_Missense_Mutation_p.R104L	p.R104L	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1543	-			104					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.311G>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838685	0.51057	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	4.58	4.58	0.56647	.	0.060448	0.64402	D	0.000002	T	0.16128	0.0388	L	0.58101	1.795	0.52501	D	0.999954	B	0.23990	0.095	B	0.34093	0.175	T	0.02698	-1.1122	10	0.48119	T	0.1	-6.3317	14.1699	0.65503	0.0:1.0:0.0:0.0	.	104	Q15014	MO4L2_HUMAN	L	104;104;104;104;86;104;104;104;104;104	ENSP00000353643:R104L;ENSP00000415476:R104L;ENSP00000394417:R104L;ENSP00000410532:R104L;ENSP00000391969:R104L;ENSP00000416120:R104L;ENSP00000413664:R104L;ENSP00000393283:R104L;ENSP00000400938:R104L	ENSP00000353643:R104L	R	-	2	0	MORF4L2	102818301	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.095000	0.64529	2.520000	0.84964	0.600000	0.82982	CGG		PASS	0.507	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		134	70	134	70	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428802	135428802	+	Silent	SNP	C	C	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:135428802C>T	ENST00000394143.1	+	6	3228	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	GPR112_ENST00000394141.1_Silent_p.S774S|GPR112_ENST00000287534.4_Silent_p.S916S|GPR112_ENST00000370652.1_Silent_p.S979S|GPR112_ENST00000412101.1_Silent_p.S774S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	979					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.S979S(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)					CCAGTTTCTCCACTACCCCTA	0.512																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2935-2937)TCC>TCT		G-protein coupled receptor 112							165.0	147.0	153.0					X																	135428802		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428802C>T	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.2937C>T	X.37:g.135428802C>T						GPR112_uc010nsb.1_Silent_p.S774S|GPR112_uc010nsc.1_Silent_p.S746S	p.S979S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3228	+	Acute lymphoblastic leukemia(192;0.000127)		979			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.2937C>T	CCDS35409.1																																																																																				PASS	0.512	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			162	94	162	94	---	---	---	---
FATE1	89885	broad.mit.edu	37	X	150891157	150891157	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:150891157C>A	ENST00000370350.3	+	5	563	c.478C>A	c.(478-480)Cac>Aac	p.H160N		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	160						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.H160N(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTGGCGCCACAGGGAGAC	0.647																																						uc004fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)CAC>AAC		fetal and adult testis expressed transcript							51.0	55.0	53.0					X																	150891157		2201	4299	6500	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150891157C>A	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.478C>A	X.37:g.150891157C>A	ENSP00000359375:p.His160Asn						p.H160N	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			5	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		160						Missense_Mutation	SNP	ENST00000370350.3	37	c.478C>A	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996946	0.19043	.	.	ENSG00000147378	ENST00000370350	T	0.47177	0.85	4.39	0.457	0.16661	.	1.316210	0.05057	N	0.479260	T	0.35158	0.0922	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29150	-1.0021	10	0.62326	D	0.03	0.338	3.1425	0.06461	0.1899:0.4804:0.0:0.3297	.	160	Q969F0	FATE1_HUMAN	N	160	ENSP00000359375:H160N	ENSP00000359375:H160N	H	+	1	0	FATE1	150641813	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.232000	0.17891	-0.153000	0.11137	0.600000	0.82982	CAC		PASS	0.647	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		46	24	46	24	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530563	80530564	+	Frame_Shift_Ins	INS	-	-	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr2:80530563_80530564insT	ENST00000295057.3	-	2	1037_1038	c.381_382insA	c.(379-384)caactgfs	p.L128fs	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Frame_Shift_Ins_p.L128fs|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	128					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTGTTGGGCAGTTGGGTGATCT	0.604										HNSCC(69;0.2)																												uc002sok.1																			0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(379-384)CAACTGfs		leucine rich repeat transmembrane neuronal 1																																				SO:0001589	frameshift_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530563_80530564insT	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.382dupA	2.37:g.80530565_80530565dupT	ENSP00000295057:p.Leu128fs	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.Q127fs	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	651_652	-			127_128			LRR 2.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Frame_Shift_Ins	INS	ENST00000295057.3	37	c.381_382insA	CCDS1966.1																																																																																					0.604	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		181	132	181	132	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111441213	111441213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr4:111441213delG	ENST00000265162.5	+	9	1901	c.1559delG	c.(1558-1560)tggfs	p.W520fs	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	520					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCTGATTTTTGGGCAGCACTG	0.323																																						uc003iab.3																			0				skin(3)|ovary(1)|breast(1)	5						c.(1558-1560)TGGfs		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						79.0	85.0	83.0					4																	111441213		2203	4300	6503	SO:0001589	frameshift_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441213delG	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1559delG	4.37:g.111441213delG	ENSP00000265162:p.Trp520fs						p.W520fs	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	9	1901	+		Hepatocellular(203;0.217)	520			Extracellular (Potential).		Q504U2	Frame_Shift_Del	DEL	ENST00000265162.5	37	c.1559delG	CCDS3691.1																																																																																					0.323	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			69	30	69	30	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590646	140590646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr5:140590646delG	ENST00000239450.2	+	1	2356	c.2167delG	c.(2167-2169)ggtfs	p.G723fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.G386fs|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	723					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G723C(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCGGTCGGTCGCTGCTC	0.662																																						uc003liz.2																			1	Substitution - Missense(1)		endometrium(1)	skin(2)|ovary(1)	3						c.(2167-2169)GGTfs		protocadherin beta 12 precursor							69.0	78.0	75.0					5																	140590646		2203	4300	6503	SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590646delG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2167delG	5.37:g.140590646delG	ENSP00000239450:p.Gly723fs					PCDHB12_uc011dak.1_Frame_Shift_Del_p.G386fs|PCDHB13_uc003lja.1_5'Flank	p.G723fs	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2356	+			723			Cytoplasmic (Potential).		B4DDU1	Frame_Shift_Del	DEL	ENST00000239450.2	37	c.2167delG	CCDS4254.1																																																																																					0.662	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		106	58	106	58	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	3'UTR	INS	-	-	T	rs140176282|rs200683929|rs560402019	byFrequency	TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr6:57512916_57512917insT	ENST00000389488.2	+	0	1831_1832				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0.53																																						uc003pdx.2																			0					0						c.e16+1		DNA primase polypeptide 2																																				SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512916_57512917insT		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1829->T	6.37:g.57512924_57512924dupT								NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	16	1839	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37	c.1752_splice																																																																																						0.530	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		4	2	4	2	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158704301	158704302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr7:158704301_158704302insT	ENST00000407559.3	+	12	1679_1680	c.1521_1522insT	c.(1522-1524)ttgfs	p.L508fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	508					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTCTCTCTCTTGGATCTACC	0.322																																						uc003woe.3																			0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1519-1524)CTCTTGfs		WD repeat domain 60																																				SO:0001589	frameshift_variant	55112							g.chr7:158704301_158704302insT		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1523dupT	7.37:g.158704303_158704303dupT	ENSP00000384290:p.Leu508fs					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Frame_Shift_Ins_p.L139fs	p.L507fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1679_1680	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	507_508					Q9NW58	Frame_Shift_Ins	INS	ENST00000407559.3	37	c.1521_1522insT	CCDS47757.1																																																																																					0.322	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		77	55	77	55	---	---	---	---
NPS	594857	broad.mit.edu	37	10	129350870	129350871	+	Frame_Shift_Ins	INS	-	-	A			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr10:129350870_129350871insA	ENST00000398023.1	+	3	257_258	c.237_238insA	c.(238-240)aaafs	p.K80fs		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	80					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GCACAGGGATGAAAAAAACTTC	0.411																																						uc001ljx.1																			0					0						c.(235-240)ATGAAAfs		neuropeptide S precursor																																				SO:0001589	frameshift_variant	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129350870_129350871insA	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"""Endogenous ligands"""	33940	protein-coding gene	gene with protein product	"""prepro-neuropeptide S"""	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.244dupA	10.37:g.129350877_129350877dupA	ENSP00000381105:p.Lys80fs						p.M79fs	NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN			3	257_258	+			79_80						Frame_Shift_Ins	INS	ENST00000398023.1	37	c.237_238insA	CCDS41577.1																																																																																					0.411	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		174	121	174	121	---	---	---	---
Unknown	0	broad.mit.edu	37	11	50378075	50378075	+	IGR	DEL	G	G	-			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:50378075delG								RP11-574M7.1 (57198 upstream) : AC110283.1 (885933 downstream)																							AATATTTTCTGGAAGACTGCA	0.398																																						uc001nhe.2																			0					0								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit09-11-09-R.																																				SO:0001628	intergenic_variant	646813							g.chr11:50378075delG																													11.37:g.50378075delG						LOC646813_uc001nhf.1_RNA|LOC646813_uc001nhg.1_RNA|LOC646813_uc001nhh.1_RNA|LOC646813_uc010rib.1_RNA		NR_024504						5		+									RNA	DEL		37	c.705delG																																																																																				0		0.398									133	61	133	61	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810461	123810461	+	Frame_Shift_Del	DEL	G	G	-	rs556380144		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:123810461delG	ENST00000307033.2	+	1	212	c.138delG	c.(136-138)gtgfs	p.V47fs		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTTATTGTGGTCATAGTGA	0.448																																						uc001pzk.1																			0				ovary(1)	1						c.(136-138)GTGfs		olfactory receptor, family 4, subfamily D,							160.0	143.0	149.0					11																	123810461		2202	4299	6501	SO:0001589	frameshift_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810461delG	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.138delG	11.37:g.123810461delG	ENSP00000305970:p.Val47fs						p.V46fs	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	138	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	46			Helical; Name=1; (Potential).		B9EGZ4|Q6IFE6	Frame_Shift_Del	DEL	ENST00000307033.2	37	c.138delG	CCDS31699.1																																																																																					0.448	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		119	97	119	97	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294406	124294407	+	Frame_Shift_Ins	INS	-	-	G	rs371189371		TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chr11:124294406_124294407insG	ENST00000356130.3	-	1	382_383	c.361_362insC	c.(361-363)cgcfs	p.R121fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGCCACATAGCGATCATAGGCC	0.455																																						uc010sak.1																			0				skin(1)	1						c.(361-363)CGCfs		olfactory receptor, family 8, subfamily B,																																				SO:0001589	frameshift_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294406_124294407insG	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.362dupC	11.37:g.124294407_124294407dupG	ENSP00000348449:p.Arg121fs						p.R121fs	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	361_362	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121			Cytoplasmic (Potential).		B2RNF8|Q6IFQ7	Frame_Shift_Ins	INS	ENST00000356130.3	37	c.361_362insC	CCDS31710.1																																																																																					0.455	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		62	65	62	65	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155239822	155239827	+	In_Frame_Del	DEL	CAACAA	CAACAA	-			TCGA-34-2596-01A-01D-1522-08	TCGA-34-2596-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66e35f68-f4db-46ee-876e-e770ea616ef3	8e493b75-0f2c-45b3-a829-88633e8fc3f2	g.chrX:155239822_155239827delCAACAA	ENST00000244174.5	+	9	1493_1498	c.1314_1319delCAACAA	c.(1312-1320)agcaacaac>agc	p.NN441del	IL9R_ENST00000424344.3_In_Frame_Del_p.NN420del|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	441	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N440S(1)|p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcagcagcagcaacaacaacaACTAC	0.641																																						uc004fnv.1																			2	Substitution - Missense(2)		kidney(2)		0						c.(1312-1320)AGCAACAAC>AGC		interleukin 9 receptor precursor																																				SO:0001651	inframe_deletion	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239822_155239827delCAACAA	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1314_1319delCAACAA	X.37:g.155239828_155239833delCAACAA	ENSP00000244174:p.Asn441_Asn442del					IL9R_uc004fnu.1_3'UTR	p.NN441del	NM_002186	NP_002177	Q01113	IL9R_HUMAN			9	1493_1498	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		441_442			Poly-Asn.|Cytoplasmic (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	In_Frame_Del	DEL	ENST00000244174.5	37	c.1314_1319delCAACAA	CCDS14771.4																																																																																					0.641	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		4	2	4	2	---	---	---	---
