#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
CFAP74	85452	broad.mit.edu	37	1	1920058	1920058	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:1920058C>A	ENST00000434971.2	-	4	221	c.189G>T	c.(187-189)ttG>ttT	p.L63F				Q69YW0	CA222_HUMAN		0								p.L63F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTTTCTTCTTCAATTTATCAG	0.498																																						uc001aim.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(187-189)TTG>TTT		hypothetical protein LOC85452							112.0	115.0	114.0					1																	1920058		2003	4183	6186	SO:0001583	missense	85452							g.chr1:1920058C>A																												ENST00000434971.2:c.189G>T	1.37:g.1920058C>A	ENSP00000408078:p.Leu63Phe					KIAA1751_uc009vkz.1_Missense_Mutation_p.L63F|KIAA1751_uc001ain.1_Missense_Mutation_p.L63F	p.L63F	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	345	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	63						Missense_Mutation	SNP	ENST00000434971.2	37	c.189G>T		.	.	.	.	.	.	.	.	.	.	c	3.904	-0.021369	0.07634	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.50813	0.73;0.74	3.42	1.19	0.21007	.	.	.	.	.	T	0.17746	0.0426	N	0.03608	-0.345	0.09310	N	1	B;B	0.29508	0.246;0.15	B;B	0.24269	0.052;0.025	T	0.18429	-1.0337	9	0.15952	T	0.53	-9.0E-4	3.3955	0.07304	0.2691:0.5624:0.0:0.1685	.	63;63	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	F	63;54;63	ENSP00000367853:L54F;ENSP00000408078:L63F	ENSP00000270720:L63F	L	-	3	2	C1orf222	1909918	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.258000	0.02863	0.145000	0.18977	0.450000	0.29827	TTG		PASS	0.498	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				96	108	96	108	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9794028	9794028	+	Splice_Site	SNP	A	A	G	rs111547640		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:9794028A>G	ENST00000377298.4	-	15	3074		c.e15+1		CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Splice_Site|CLSTN1_ENST00000361311.4_Splice_Site	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1						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.?(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)		CGCTCCCCTTACCTGTGAAGG	0.597																																						uc001aqh.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e15+1		calsyntenin 1 isoform 1							84.0	69.0	74.0					1																	9794028		2203	4300	6503	SO:0001630	splice_region_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9794028A>G	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.2281+1T>C	1.37:g.9794028A>G						CLSTN1_uc001aqi.2_Splice_Site_p.G751_splice|CLSTN1_uc010oag.1_Splice_Site_p.G742_splice|CLSTN1_uc001aqf.2_5'Flank	p.G761_splice	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)	15	3040	-	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)						A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Splice_Site	SNP	ENST00000377298.4	37	c.2281_splice	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201667	0.79015	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9476	0.71044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLSTN1	9716615	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.300000	0.96151	1.946000	0.56461	0.533000	0.62120	.		PASS	0.597	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		Intron	8	155	8	155	---	---	---	---
CASP9	842	broad.mit.edu	37	1	15821807	15821807	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:15821807T>C	ENST00000333868.5	-	7	1103	c.1009A>G	c.(1009-1011)Aca>Gca	p.T337A	CASP9_ENST00000348549.5_Missense_Mutation_p.T187A|CASP9_ENST00000375890.4_Missense_Mutation_p.T254A|CASP9_ENST00000546424.1_Missense_Mutation_p.T337A	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	337					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.T337A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCACTGGGTGTGGGCAAACTA	0.582																																						uc001awn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(1009-1011)ACA>GCA		caspase 9 isoform alpha preproprotein							109.0	77.0	88.0					1																	15821807		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15821807T>C	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.1009A>G	1.37:g.15821807T>C	ENSP00000330237:p.Thr337Ala					CASP9_uc001awm.1_Missense_Mutation_p.T337A|CASP9_uc001awo.2_Missense_Mutation_p.T187A|CASP9_uc001awp.2_Missense_Mutation_p.T181A|CASP9_uc009voi.2_Missense_Mutation_p.T181A|CASP9_uc010obm.1_Missense_Mutation_p.T254A|CASP9_uc001awq.2_Missense_Mutation_p.T254A	p.T337A	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	7	1104	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	337					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.1009A>G	CCDS158.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482614	0.84747	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.36	5.36	0.76844	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.66506	2.035	0.58432	D	0.999992	P;D;D	0.76494	0.707;0.999;0.999	P;D;D	0.80764	0.615;0.992;0.994	T	0.38178	-0.9673	10	0.62326	D	0.03	.	13.3131	0.60390	0.0:0.0:0.0:1.0	.	187;337;337	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	A	337;337;187;254;254	ENSP00000449584:T337A;ENSP00000330237:T337A;ENSP00000255256:T187A;ENSP00000365051:T254A;ENSP00000396540:T254A	ENSP00000330237:T337A	T	-	1	0	CASP9	15694394	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	6.976000	0.76135	2.037000	0.60232	0.459000	0.35465	ACA		PASS	0.582	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		15	23	15	23	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16902816	16902816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:16902816G>A	ENST00000430580.2	-	19	2952	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	NBPF1_ENST00000287968.8_Nonsense_Mutation_p.Q54*|NBPF1_ENST00000432949.1_Nonsense_Mutation_p.Q147*|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	689						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGCCAGCTGTTCTTGGAGG	0.582																																						uc009vos.1																			0					0						c.(2065-2067)CAG>TAG		hypothetical protein LOC55672							297.0	324.0	314.0					1																	16902816		1510	2705	4215	SO:0001587	stop_gained	55672					cytoplasm		g.chr1:16902816G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2065C>T	1.37:g.16902816G>A	ENSP00000474456:p.Gln689*					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Nonsense_Mutation_p.Q147*|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q418*	p.Q689*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2953	-			689					Q8N4E8|Q9C0H0	Nonsense_Mutation	SNP	ENST00000430580.2	37	c.2065C>T																																																																																					PASS	0.582	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		34	883	34	883	---	---	---	---
UBXN10	127733	broad.mit.edu	37	1	20517189	20517189	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:20517189G>T	ENST00000375099.3	+	2	219	c.135G>T	c.(133-135)cgG>cgT	p.R45R		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	45								p.R45R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCAAGGGACGGACAAGACCGA	0.532																																						uc001bdb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(133-135)CGG>CGT		UBX domain protein 10							99.0	86.0	90.0					1																	20517189		2203	4300	6503	SO:0001819	synonymous_variant	127733							g.chr1:20517189G>T	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.135G>T	1.37:g.20517189G>T							p.R45R	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN			2	219	+			45					Q5R386	Silent	SNP	ENST00000375099.3	37	c.135G>T	CCDS205.1																																																																																				PASS	0.532	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		73	77	73	77	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22915561	22915561	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:22915561G>T	ENST00000166244.3	+	5	1249	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	EPHA8_ENST00000538803.1_Missense_Mutation_p.V393L|EPHA8_ENST00000374644.4_Missense_Mutation_p.V393L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	393	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V393L(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACAAGCCTGGTGCAGGCCAG	0.672																																						uc001bfx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1177-1179)GTG>TTG		ephrin receptor EphA8 isoform 1 precursor							24.0	21.0	22.0					1																	22915561		2203	4297	6500	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22915561G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1177G>T	1.37:g.22915561G>T	ENSP00000166244:p.Val393Leu					EPHA8_uc001bfw.2_Missense_Mutation_p.V393L	p.V393L	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1302	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	393			Extracellular (Potential).|Fibronectin type-III 1.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1177G>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981480	0.53827	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.57907	0.37;0.37;0.37	4.1	4.1	0.47936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.237479	0.35436	N	0.003201	T	0.50905	0.1643	L	0.58810	1.83	0.31131	N	0.707721	B;B	0.24651	0.037;0.108	B;B	0.25506	0.014;0.061	T	0.61148	-0.7121	10	0.62326	D	0.03	.	15.4006	0.74838	0.0:0.0:1.0:0.0	.	393;393	P29322;P29322-2	EPHA8_HUMAN;.	L	393	ENSP00000166244:V393L;ENSP00000363775:V393L;ENSP00000440274:V393L	ENSP00000166244:V393L	V	+	1	0	EPHA8	22788148	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.174000	0.58256	2.272000	0.75746	0.436000	0.28706	GTG		PASS	0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		8	29	8	29	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34238179	34238179	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:34238179C>G	ENST00000338325.1	-	7	1073	c.661G>C	c.(661-663)Ggc>Cgc	p.G221R	CSMD2_ENST00000373381.4_Missense_Mutation_p.G613R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	573	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G573R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACACGCAGCCTGGCTTCTTA	0.587																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(1717-1719)GGC>CGC		CUB and Sushi multiple domains 2							119.0	105.0	110.0					1																	34238179		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34238179C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.661G>C	1.37:g.34238179C>G	ENSP00000340311:p.Gly221Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.G613R	p.G573R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			13	1746	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	573			Sushi 3.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1717G>C		.	.	.	.	.	.	.	.	.	.	C	14.84	2.656899	0.47467	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.62364	0.03;0.03	5.92	5.02	0.67125	Complement control module (2);Sushi/SCR/CCP (3);	0.162822	0.53938	D	0.000045	T	0.36166	0.0957	N	0.00165	-1.945	0.80722	D	1	P;P	0.48764	0.915;0.721	P;P	0.54590	0.756;0.673	T	0.58081	-0.7699	10	0.19147	T	0.46	.	13.8	0.63194	0.0:0.9262:0.0:0.0738	.	573;613	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	613;221	ENSP00000362479:G613R;ENSP00000340311:G221R	ENSP00000241312:G573R	G	-	1	0	CSMD2	34010766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.990000	0.49401	1.525000	0.49052	0.561000	0.74099	GGC		PASS	0.587	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		38	128	38	128	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36941098	36941098	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:36941098C>T	ENST00000373106.1	-	4	788	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	CSF3R_ENST00000373103.1_Missense_Mutation_p.G81R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G81R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G81R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G81R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G81R|CSF3R_ENST00000361632.4_Missense_Mutation_p.G81R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G81R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	81	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G81R(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTGGGTCCCATCAGACAGA	0.602																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(241-243)GGG>AGG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						97.0	76.0	83.0					1																	36941098		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941098C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.241G>A	1.37:g.36941098C>T	ENSP00000362198:p.Gly81Arg					CSF3R_uc001cav.1_Missense_Mutation_p.G81R|CSF3R_uc001cax.1_Missense_Mutation_p.G81R|CSF3R_uc001cay.1_Missense_Mutation_p.G81R	p.G81R	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			4	419	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	81			Ig-like C2-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.241G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225001	0.58668	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.49	5.49	0.81192	Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.569360	0.03710	N	0.250065	D	0.87791	0.6266	M	0.69823	2.125	0.47153	D	0.999331	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;0.997	T	0.73905	-0.3835	10	0.32370	T	0.25	-23.8267	16.8922	0.86090	0.0:1.0:0.0:0.0	.	81;81;81;81	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	R	81	ENSP00000362198:G81R;ENSP00000362196:G81R;ENSP00000362195:G81R;ENSP00000355406:G81R;ENSP00000332180:G81R;ENSP00000401588:G81R;ENSP00000345013:G81R;ENSP00000397568:G81R	ENSP00000332180:G81R	G	-	1	0	CSF3R	36713685	0.923000	0.31300	0.198000	0.23420	0.309000	0.27889	4.304000	0.59104	2.753000	0.94483	0.555000	0.69702	GGG		PASS	0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		84	70	84	70	---	---	---	---
AKIRIN1	79647	broad.mit.edu	37	1	39457232	39457232	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:39457232G>T	ENST00000432648.3	+	1	338	c.180G>T	c.(178-180)caG>caT	p.Q60H	AKIRIN1_ENST00000372984.4_Missense_Mutation_p.Q60H|AKIRIN1_ENST00000446189.2_Missense_Mutation_p.Q60H	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	60	Pro-rich.					nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.Q60H(1)		lung(1)|prostate(1)|skin(1)	3						GTCTGCAGCAGCCCGCCCCGC	0.736																																						uc001ccw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CAG>CAT		akirin 1 isoform 1							2.0	2.0	2.0					1																	39457232		959	2440	3399	SO:0001583	missense	79647					nucleus		g.chr1:39457232G>T	AK022728	CCDS433.1, CCDS44113.1	1p34.3	2013-10-11	2008-06-23	2008-06-23	ENSG00000174574	ENSG00000174574			25744	protein-coding gene	gene with protein product		615164	"""chromosome 1 open reading frame 108"""	C1orf108		19200367	Standard	NM_024595		Approved	FLJ12666	uc001ccw.3	Q9H9L7	OTTHUMG00000007496	ENST00000432648.3:c.180G>T	1.37:g.39457232G>T	ENSP00000392678:p.Gln60His					AKIRIN1_uc010oip.1_Missense_Mutation_p.Q60H|AKIRIN1_uc010oiq.1_Missense_Mutation_p.Q60H	p.Q60H	NM_024595	NP_078871	Q9H9L7	AKIR1_HUMAN			1	317	+			60			Pro-rich.		B4DZU6|Q0VDB3|Q53FK8	Missense_Mutation	SNP	ENST00000432648.3	37	c.180G>T	CCDS433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.87|17.87	3.495595|3.495595	0.64186|0.64186	.|.	.|.	ENSG00000174574|ENSG00000174574	ENST00000432648;ENST00000446189;ENST00000372984|ENST00000531822	T;T;T|.	0.45276|.	0.9;0.9;0.96|.	3.62|3.62	2.69|2.69	0.31865|0.31865	.|.	0.225624|.	0.38436|.	N|.	0.001681|.	T|T	0.34658|0.34658	0.0905|0.0905	L|L	0.32530|0.32530	0.975|0.975	0.25755|0.25755	N|N	0.985012|0.985012	D;D;P|.	0.55605|.	0.972;0.972;0.755|.	P;P;B|.	0.49047|.	0.599;0.599;0.346|.	T|T	0.20405|0.20405	-1.0276|-1.0276	10|5	0.72032|.	D|.	0.01|.	-5.7763|-5.7763	9.3113|9.3113	0.37908|0.37908	0.1104:0.0:0.8896:0.0|0.1104:0.0:0.8896:0.0	.|.	60;60;60|.	B4DQP0;B4DZU6;Q9H9L7|.	.;.;AKIR1_HUMAN|.	H|I	60|22	ENSP00000392678:Q60H;ENSP00000389866:Q60H;ENSP00000362075:Q60H|.	ENSP00000362075:Q60H|.	Q|S	+|+	3|2	2|0	AKIRIN1|AKIRIN1	39229819|39229819	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.936000|0.936000	0.57629|0.57629	5.458000|5.458000	0.66679|0.66679	1.089000|1.089000	0.41292|0.41292	0.558000|0.558000	0.71614|0.71614	CAG|AGC		PASS	0.736	AKIRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019687.2	NM_024595		3	3	3	3	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39696876	39696876	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:39696876G>C	ENST00000372915.3	+	2	330	c.243G>C	c.(241-243)aaG>aaC	p.K81N	MACF1_ENST00000564288.1_Missense_Mutation_p.K44N|MACF1_ENST00000567887.1_Missense_Mutation_p.K81N|MACF1_ENST00000536367.1_Missense_Mutation_p.K44N|MACF1_ENST00000317713.7_Missense_Mutation_p.K81N|MACF1_ENST00000361689.2_Missense_Mutation_p.K81N|MACF1_ENST00000539005.1_Missense_Mutation_p.K81N|MACF1_ENST00000545844.1_Missense_Mutation_p.K81N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	81	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K81N(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGTTCAGAAGAAAACGTTCA	0.512																																						uc010ois.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(241-243)AAG>AAC		microfilament and actin filament cross-linker							241.0	231.0	234.0					1																	39696876		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39696876G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.243G>C	1.37:g.39696876G>C	ENSP00000362006:p.Lys81Asn					MACF1_uc001cda.1_5'UTR|MACF1_uc010oit.1_Missense_Mutation_p.K44N	p.K81N	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		4	448	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	81			Actin-binding.|CH 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.243G>C		.	.	.	.	.	.	.	.	.	.	G	19.30	3.801277	0.70567	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000494012;ENST00000536367	D;D;D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.34	4.43	0.53597	.	.	.	.	.	D	0.97508	0.9184	M	0.87180	2.865	0.50813	D	0.99989	D;D	0.89917	0.999;1.0	D;D	0.81914	0.988;0.995	D	0.97593	1.0118	9	0.87932	D	0	.	10.1451	0.42758	0.0926:0.0:0.9074:0.0	.	44;81	B4E2T3;F8W8Q1	.;.	N	81;81;81;97;81;81;39;44;44	ENSP00000439537:K81N;ENSP00000362006:K81N;ENSP00000354573:K81N;ENSP00000313438:K81N;ENSP00000444364:K81N;ENSP00000435070:K39N;ENSP00000435892:K44N;ENSP00000440369:K44N	ENSP00000313438:K81N	K	+	3	2	MACF1	39469463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.876000	0.48498	1.249000	0.43950	-0.150000	0.13652	AAG		PASS	0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		90	472	90	472	---	---	---	---
NT5C1A	84618	broad.mit.edu	37	1	40131788	40131788	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:40131788G>T	ENST00000235628.1	-	2	255	c.256C>A	c.(256-258)Cat>Aat	p.H86N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	86					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.H86N(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGTTCTCATGTTCCAGCTGG	0.577																																						uc001cdq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)CAT>AAT		5'-nucleotidase, cytosolic IA							131.0	97.0	108.0					1																	40131788		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131788G>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.256C>A	1.37:g.40131788G>T	ENSP00000235628:p.His86Asn						p.H86N	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	256	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	86					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.256C>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800363	0.50315	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.56	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	N	0.17379	0.485	0.58432	D	0.999999	B	0.11235	0.004	B	0.20384	0.029	T	0.14699	-1.0463	9	0.10377	T	0.69	1.0843	14.1594	0.65436	0.0:0.0:0.8489:0.1511	.	86	Q9BXI3	5NT1A_HUMAN	N	86	.	ENSP00000235628:H86N	H	-	1	0	NT5C1A	39904375	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.639000	0.67868	1.037000	0.40024	0.650000	0.86243	CAT		PASS	0.577	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		66	123	66	123	---	---	---	---
ZFP69	339559	broad.mit.edu	37	1	40954798	40954798	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:40954798C>G	ENST00000372706.1	+	4	1264	c.258C>G	c.(256-258)acC>acG	p.T86T	ZFP69_ENST00000372705.3_Silent_p.T86T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.T86T(1)									TTGACTTCACCCAGGAAGAGT	0.468																																						uc001cfo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)ACC>ACG		zinc finger protein 642							69.0	69.0	69.0					1																	40954798		2203	4300	6503	SO:0001819	synonymous_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40954798C>G	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.258C>G	1.37:g.40954798C>G						ZNF642_uc009vwb.2_Silent_p.T86T|ZNF642_uc010ojk.1_Silent_p.T86T	p.T86T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		4	552	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	86			KRAB.		Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.258C>G	CCDS30686.1																																																																																				PASS	0.468	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		18	127	18	127	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43778111	43778111	+	Missense_Mutation	SNP	G	G	T	rs148519949	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:43778111G>T	ENST00000372476.3	+	12	1845	c.1766G>T	c.(1765-1767)cGg>cTg	p.R589L	TIE1_ENST00000433781.2_Missense_Mutation_p.R234L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	589	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R589L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACGGGACACGGGGGCAGGAG	0.697																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1765-1767)CGG>CTG		tyrosine kinase with immunoglobulin-like and							38.0	39.0	39.0					1																	43778111		2203	4298	6501	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778111G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1766G>T	1.37:g.43778111G>T	ENSP00000361554:p.Arg589Leu					TIE1_uc010okd.1_Missense_Mutation_p.R589L|TIE1_uc010oke.1_Missense_Mutation_p.R544L|TIE1_uc009vwq.2_Missense_Mutation_p.R545L|TIE1_uc010okf.1_Missense_Mutation_p.R234L|TIE1_uc010okg.1_Missense_Mutation_p.R234L	p.R589L	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1845	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	589			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1766G>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736985	0.30774	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.57107	0.42;0.42	5.43	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34986	N	0.003540	T	0.45276	0.1334	N	0.14661	0.345	0.28857	N	0.895758	B;P;D;P;P	0.57257	0.429;0.485;0.979;0.485;0.729	B;B;P;B;B	0.59546	0.095;0.226;0.859;0.153;0.339	T	0.31916	-0.9926	10	0.10902	T	0.67	.	9.1856	0.37168	0.22:0.0:0.78:0.0	.	234;544;589;234;589	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	L	589;234	ENSP00000361554:R589L;ENSP00000411728:R234L	ENSP00000361554:R589L	R	+	2	0	TIE1	43550698	0.922000	0.31269	0.903000	0.35520	0.674000	0.39518	1.103000	0.31062	1.286000	0.44565	0.563000	0.77884	CGG		PASS	0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		44	80	44	80	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53569154	53569154	+	Silent	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:53569154G>C	ENST00000371494.4	-	5	688	c.561C>G	c.(559-561)gtC>gtG	p.V187V		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	187					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V187V(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TCTCCTCCTGGACCCCGTAGA	0.637																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(559-561)GTC>GTG		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						38.0	44.0	42.0					1																	53569154		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53569154G>C	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.561C>G	1.37:g.53569154G>C							p.V187V	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	5	729	-			187			Extracellular (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.561C>G	CCDS574.1																																																																																				PASS	0.637	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		19	43	19	43	---	---	---	---
C8A	731	broad.mit.edu	37	1	57351626	57351626	+	Silent	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:57351626A>T	ENST00000361249.3	+	7	978	c.882A>T	c.(880-882)acA>acT	p.T294T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	294	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.T294T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAATCTTCACAAAGGTGCAGA	0.363																																						uc001cyo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(880-882)ACA>ACT		complement component 8, alpha polypeptide							70.0	67.0	68.0					1																	57351626		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351626A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.882A>T	1.37:g.57351626A>T							p.T294T	NM_000562	NP_000553	P07357	CO8A_HUMAN			7	1014	+			294			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.882A>T	CCDS606.1																																																																																				PASS	0.363	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		57	73	57	73	---	---	---	---
INSL5	10022	broad.mit.edu	37	1	67266898	67266898	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:67266898C>A	ENST00000304526.2	-	1	41	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	3						extracellular region (GO:0005576)		p.G3C(1)		breast(2)|endometrium(1)|lung(5)	8						AAAATGGAGCCCTTCATTTTG	0.403																																						uc001dcw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GGC>TGC		insulin-like 5 precursor							62.0	65.0	64.0					1																	67266898		2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67266898C>A	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.7G>T	1.37:g.67266898C>A	ENSP00000302724:p.Gly3Cys						p.G3C	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			1	42	-			3					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.7G>T	CCDS634.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786874	0.49997	.	.	ENSG00000172410	ENST00000304526	T	0.65178	-0.14	4.48	3.57	0.40892	.	0.200652	0.32093	N	0.006581	T	0.62925	0.2468	L	0.54323	1.7	0.34999	D	0.755822	D	0.89917	1.0	D	0.70227	0.968	T	0.68243	-0.5460	10	0.66056	D	0.02	1.1952	10.2051	0.43107	0.0:0.9028:0.0:0.0972	.	3	Q9Y5Q6	INSL5_HUMAN	C	3	ENSP00000302724:G3C	ENSP00000302724:G3C	G	-	1	0	INSL5	67039486	0.591000	0.26824	0.822000	0.32727	0.073000	0.16967	2.141000	0.42168	1.088000	0.41272	0.655000	0.94253	GGC		PASS	0.403	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		16	31	16	31	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67337155	67337155	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:67337155T>A	ENST00000371026.3	-	6	893	c.838A>T	c.(838-840)Aga>Tga	p.R280*	WDR78_ENST00000371022.3_Nonsense_Mutation_p.R280*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.R280*|WDR78_ENST00000431318.1_Nonsense_Mutation_p.R26*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	280					hematopoietic progenitor cell differentiation (GO:0002244)			p.R280*(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTGCCTAATCTGTTTCTACAA	0.313																																						uc001dcx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(838-840)AGA>TGA		WD repeat domain 78 isoform 1							150.0	150.0	150.0					1																	67337155		2202	4297	6499	SO:0001587	stop_gained	79819							g.chr1:67337155T>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.838A>T	1.37:g.67337155T>A	ENSP00000360065:p.Arg280*					WDR78_uc001dcy.2_Nonsense_Mutation_p.R280*|WDR78_uc001dcz.2_Nonsense_Mutation_p.R280*|WDR78_uc009waw.2_Nonsense_Mutation_p.R26*|WDR78_uc009wax.2_RNA	p.R280*	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			6	894	-			280					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.838A>T	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.92|19.92	3.915860|3.915860	0.73098|0.73098	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000469450|ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	.|.	.|.	.|.	5.86|5.86	4.67|4.67	0.58626|0.58626	.|.	.|0.137196	.|0.64402	.|D	.|0.000003	T|.	0.17109|.	0.0411|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.05566|.	-1.0877|.	3|.	.|0.02654	.|T	.|1	-40.0417|-40.0417	13.5325|13.5325	0.61629|0.61629	0.0:0.0:0.1381:0.8619|0.0:0.0:0.1381:0.8619	.|.	.|.	.|.	.|.	L|X	13|280;26;46;280;280	.|.	.|ENSP00000360061:R280X	Q|R	-|-	2|1	0|2	WDR78|WDR78	67109743|67109743	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.003000|0.003000	0.03518|0.03518	3.505000|3.505000	0.53356|0.53356	2.229000|2.229000	0.72834|0.72834	0.528000|0.528000	0.53228|0.53228	CAG|AGA		PASS	0.313	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		34	52	34	52	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038644	75038644	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:75038644T>C	ENST00000326665.5	-	14	2968	c.2750A>G	c.(2749-2751)cAt>cGt	p.H917R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		917	Glu-rich.							p.H917R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTACTTCATGAAGATGCTC	0.542																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2749-2751)CAT>CGT		hypothetical protein LOC127254							193.0	189.0	190.0					1																	75038644		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038644T>C																												ENST00000326665.5:c.2750A>G	1.37:g.75038644T>C	ENSP00000322609:p.His917Arg						p.H917R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2969	-			917			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2750A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	9.009	0.981942	0.18812	.	.	ENSG00000178965	ENST00000326665	T	0.10960	2.82	4.64	-3.04	0.05412	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48592	-0.9022	9	0.16896	T	0.51	-0.5934	5.6512	0.17616	0.0:0.276:0.2478:0.4762	.	917	Q5RHP9	CA173_HUMAN	R	917	ENSP00000322609:H917R	ENSP00000322609:H917R	H	-	2	0	C1orf173	74811232	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.538000	0.06120	-0.374000	0.07967	-0.371000	0.07208	CAT		PASS	0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	464	25	464	---	---	---	---
PALMD	54873	broad.mit.edu	37	1	100155158	100155158	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:100155158G>C	ENST00000263174.4	+	7	1717	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	PALMD_ENST00000605497.1_Missense_Mutation_p.D448H	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	448					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.D448H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGTTGTGATTGATGATGAGGA	0.483																																						uc001dsg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1342-1344)GAT>CAT		palmdelphin							93.0	73.0	80.0					1																	100155158		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100155158G>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1342G>C	1.37:g.100155158G>C	ENSP00000263174:p.Asp448His					PALMD_uc001dsf.2_Missense_Mutation_p.D448H	p.D448H	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1785	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	448					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1342G>C	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511329	0.64522	.	.	ENSG00000099260	ENST00000263174	T	0.18174	2.23	5.33	5.33	0.75918	.	0.207467	0.50627	D	0.000116	T	0.37265	0.0997	M	0.76328	2.33	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.25710	-1.0124	10	0.87932	D	0	-25.947	18.6427	0.91400	0.0:0.0:1.0:0.0	.	448;368	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	H	448	ENSP00000263174:D448H	ENSP00000263174:D448H	D	+	1	0	PALMD	99927746	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.316000	0.72857	2.488000	0.83962	0.563000	0.77884	GAT		PASS	0.483	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		6	97	6	97	---	---	---	---
MIR197	406974	broad.mit.edu	37	1	110141522	110141522	+	RNA	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:110141522C>T	ENST00000436416.1	+	0	1192				MIR197_ENST00000384976.2_RNA																							GGGGGCTGTGCCGGGTAGAGA	0.567																																						hsa-mir-197|MI0000239																			0					0															101.0	96.0	97.0					1																	110141522		1568	3582	5150			406974							g.chr1:110141522C>T																													1.37:g.110141522C>T						uc010ovq.1_RNA										+									RNA	SNP	ENST00000436416.1	37	c.8C>T																																																																																					PASS	0.567	RP5-1160K1.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000032199.1			5	242	5	242	---	---	---	---
PROK1	84432	broad.mit.edu	37	1	110998902	110998902	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:110998902A>T	ENST00000271331.3	+	3	264	c.247A>T	c.(247-249)Aac>Tac	p.N83Y	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	83					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)		p.N83Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTGCTTGCCCAACCTGCTGTG	0.552																																						uc001dzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AAC>TAC		prokineticin 1 precursor							118.0	106.0	110.0					1																	110998902		2203	4300	6503	SO:0001583	missense	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110998902A>T	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.247A>T	1.37:g.110998902A>T	ENSP00000271331:p.Asn83Tyr						p.N83Y	NM_032414	NP_115790	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	298	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	83					Q5VWD4|Q8TC69	Missense_Mutation	SNP	ENST00000271331.3	37	c.247A>T	CCDS825.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504972	0.26949	.	.	ENSG00000143125	ENST00000271331	T	0.65549	-0.16	5.34	5.34	0.76211	Prokineticin domain (2);	0.410282	0.28859	N	0.013911	T	0.52917	0.1764	M	0.76328	2.33	0.28033	N	0.934057	P	0.38335	0.627	B	0.40375	0.327	T	0.57260	-0.7842	10	0.56958	D	0.05	.	14.2986	0.66331	1.0:0.0:0.0:0.0	.	83	P58294	PROK1_HUMAN	Y	83	ENSP00000271331:N83Y	ENSP00000271331:N83Y	N	+	1	0	PROK1	110800425	0.034000	0.19679	0.502000	0.27614	0.139000	0.21198	2.664000	0.46783	2.018000	0.59344	0.377000	0.23210	AAC		PASS	0.552	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		102	98	102	98	---	---	---	---
KCNA2	3737	broad.mit.edu	37	1	111146539	111146539	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:111146539G>A	ENST00000485317.1	-	3	1539	c.866C>T	c.(865-867)tCa>tTa	p.S289L	KCNA2_ENST00000440270.1_Missense_Mutation_p.S289L|KCNA2_ENST00000369770.3_Missense_Mutation_p.S289L|KCNA2_ENST00000316361.4_Missense_Mutation_p.S289L|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	289					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S289L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GATGGCCAGTGACATGGCCTG	0.517																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)TCA>TTA		potassium voltage-gated channel, shaker-related							105.0	104.0	105.0					1																	111146539		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146539G>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.866C>T	1.37:g.111146539G>A	ENSP00000433109:p.Ser289Leu					KCNA2_uc009wfv.1_Missense_Mutation_p.S289L|KCNA2_uc009wfw.2_Missense_Mutation_p.S289L	p.S289L	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1362	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	289					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.866C>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280953	0.80692	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.99628	1.0985	10	0.87932	D	0	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	289;289	Q86XG6;P16389	.;KCNA2_HUMAN	L	289	ENSP00000358785:S289L;ENSP00000433109:S289L;ENSP00000415257:S289L;ENSP00000314520:S289L	ENSP00000314520:S289L	S	-	2	0	KCNA2	110948062	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.807000	0.99171	2.785000	0.95823	0.655000	0.94253	TCA		PASS	0.517	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		68	179	68	179	---	---	---	---
S100A1	6271	broad.mit.edu	37	1	153604243	153604243	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:153604243G>A	ENST00000292169.1	+	3	324	c.211G>A	c.(211-213)Gac>Aac	p.D71N	S100A1_ENST00000469893.1_3'UTR|S100A13_ENST00000491177.1_5'Flank|S100A1_ENST00000368698.3_Missense_Mutation_p.D124N|RP1-178F15.4_ENST00000607839.1_RNA|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_3'UTR|CHTOP_ENST00000368694.3_5'Flank|CHTOP_ENST00000403433.1_5'Flank|RP1-178F15.4_ENST00000469931.2_RNA|S100A13_ENST00000368699.1_Intron	NM_006271.1	NP_006262.1	P23297	S10A1_HUMAN	S100 calcium binding protein A1	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762)	M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)	p.D71N(1)		breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CGGGGAGGTGGACTTCCAGGA	0.562																																					Ovarian(74;601 1703 10548 31787)	uc001fck.1																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAC>AAC		S100 calcium binding protein A1	Olopatadine(DB00768)						424.0	392.0	403.0					1																	153604243		2203	4300	6503	SO:0001583	missense	6271				intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding	g.chr1:153604243G>A	BC014392	CCDS1047.1	1q21	2013-01-10	2001-11-28		ENSG00000160678	ENSG00000160678		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10486	protein-coding gene	gene with protein product		176940	"""S100 calcium-binding protein A1"""	S100A		1998503	Standard	NM_006271		Approved	S100-alpha	uc001fck.1	P23297	OTTHUMG00000037041	ENST00000292169.1:c.211G>A	1.37:g.153604243G>A	ENSP00000292169:p.Asp71Asn					C1orf77_uc001fcm.1_5'Flank|C1orf77_uc001fcn.1_5'Flank|S100A13_uc001fcj.2_Intron|S100A1_uc001fcl.1_RNA|C1orf77_uc009woi.1_5'Flank|C1orf77_uc009woj.1_5'Flank	p.D71N	NM_006271	NP_006262	P23297	S10A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	324	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		71			2; high affinity.|EF-hand 2.		B2R5D9|Q5T7Y3	Missense_Mutation	SNP	ENST00000292169.1	37	c.211G>A	CCDS1047.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331133	0.81690	.	.	ENSG00000160678	ENST00000368698;ENST00000292169	T;T	0.67345	2.2;-0.26	5.12	5.12	0.69794	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72087	-0.4396	9	0.38643	T	0.18	.	9.4601	0.38778	0.0932:0.0:0.9068:0.0	.	71	P23297	S10A1_HUMAN	N	124;71	ENSP00000357687:D124N;ENSP00000292169:D71N	ENSP00000292169:D71N	D	+	1	0	S100A1	151870867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.920000	0.92779	2.659000	0.90383	0.655000	0.94253	GAC		PASS	0.562	S100A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089933.1	NM_006271		123	662	123	662	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156622664	156622664	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:156622664T>A	ENST00000329117.5	+	8	2258	c.1922T>A	c.(1921-1923)gTg>gAg	p.V641E	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V641E	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	641					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.V641E(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGTGGAGTGGCCGTGGTC	0.607																																						uc001fpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1921-1923)GTG>GAG		brevican isoform 1							78.0	62.0	67.0					1																	156622664		2166	4257	6423	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622664T>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1922T>A	1.37:g.156622664T>A	ENSP00000331210:p.Val641Glu					BCAN_uc001fpo.2_Missense_Mutation_p.V641E	p.V641E	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2258	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		641					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1922T>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046740	0.55110	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.15017	2.46;3.0	4.3	1.88	0.25563	.	0.430153	0.18253	N	0.146863	T	0.07458	0.0188	N	0.24115	0.695	0.34525	D	0.708585	D;D	0.64830	0.961;0.994	P;D	0.75484	0.617;0.986	T	0.09552	-1.0669	10	0.02654	T	1	-14.8295	5.4381	0.16492	0.0:0.1064:0.1911:0.7025	.	641;641	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	E	641	ENSP00000331210:V641E;ENSP00000354925:V641E	ENSP00000331210:V641E	V	+	2	0	BCAN	154889288	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	1.061000	0.30542	0.702000	0.31825	0.374000	0.22700	GTG		PASS	0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		48	117	48	117	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CADM3_ENST00000368124.4_Silent_p.I370I|CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557																																						uc001ftl.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(2)	2						c.(1006-1008)ATC>ATT		cell adhesion molecule 3 isoform 2							176.0	139.0	151.0					1																	159169596		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169596C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1008C>T	1.37:g.159169596C>T						CADM3_uc001ftk.2_Silent_p.I370I|uc001ftm.1_RNA	p.I336I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			8	1150	+	all_hematologic(112;0.0429)		336			Helical; (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1008C>T	CCDS44251.1																																																																																				PASS	0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		32	99	32	99	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160281763	160281763	+	Missense_Mutation	SNP	G	G	T	rs569042047		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:160281763G>T	ENST00000241704.7	-	11	1200	c.971C>A	c.(970-972)cCa>cAa	p.P324Q	COPA_ENST00000368069.3_Missense_Mutation_p.P324Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	324					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.P324Q(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCATAGGCTGGCCGTTCCCG	0.468																																						uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(970-972)CCA>CAA		coatomer protein complex, subunit alpha isoform							138.0	109.0	119.0					1																	160281763		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160281763G>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.971C>A	1.37:g.160281763G>T	ENSP00000241704:p.Pro324Gln					COPA_uc001fvv.3_Missense_Mutation_p.P324Q|COPA_uc009wtj.1_Missense_Mutation_p.P270Q	p.P324Q	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1365	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		324					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.971C>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890471	0.91889	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.69306	2.49;-0.39	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.991	D	0.92163	0.5737	10	0.87932	D	0	-8.3496	16.7957	0.85601	0.0:0.0:1.0:0.0	.	324;324	P53621;P53621-2	COPA_HUMAN;.	Q	324	ENSP00000357048:P324Q;ENSP00000241704:P324Q	ENSP00000241704:P324Q	P	-	2	0	COPA	158548387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.033000	0.93741	2.274000	0.75844	0.655000	0.94253	CCA		PASS	0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		35	50	35	50	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167088577	167088577	+	Missense_Mutation	SNP	G	G	A	rs34315885|rs150600224		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:167088577G>A	ENST00000361200.2	+	5	695	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E177K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E177K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	177					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E177K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CACTGGCCCCGAATTCTACAC	0.562																																						uc001geb.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(529-531)GAA>AAA		dual specificity phosphatase 27		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	123.0	112.0	116.0		529	4.2	0.7	1	dbSNP_134	116	0,8600		0,0,4300	no	missense	DUSP27	NM_001080426.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	177/1159	167088577	1,13005	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088577G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.529G>A	1.37:g.167088577G>A	ENSP00000354483:p.Glu177Lys						p.E177K	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	529	+			177					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.529G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845383	0.51164	2.27E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.60672	0.17;0.17;0.17	5.18	4.23	0.50019	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.435114	0.25771	N	0.028410	T	0.23451	0.0567	L	0.28400	0.85	0.23132	N	0.998246	P	0.46220	0.874	B	0.37508	0.252	T	0.03008	-1.1083	10	0.37606	T	0.19	-8.3702	10.6579	0.45686	0.0737:0.1331:0.7932:0.0	.	177	Q5VZP5	DUS27_HUMAN	K	177	ENSP00000354483:E177K;ENSP00000271385:E177K;ENSP00000404874:E177K	ENSP00000271385:E177K	E	+	1	0	DUSP27	165355201	0.019000	0.18553	0.678000	0.29963	0.988000	0.76386	1.618000	0.36954	1.107000	0.41642	0.591000	0.81541	GAA		PASS	0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		47	69	47	69	---	---	---	---
FMO2	2327	broad.mit.edu	37	1	171168503	171168503	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:171168503G>A	ENST00000209929.7	+	5	661	c.503G>A	c.(502-504)gGc>gAc	p.G168D	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.G168D|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	168					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.G168D(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGTTCAAAGGCCAATATTTC	0.448																																						uc001ghk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)GGC>GAC		flavin containing monooxygenase 2							86.0	91.0	89.0					1																	171168503		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171168503G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.503G>A	1.37:g.171168503G>A	ENSP00000209929:p.Gly168Asp					FMO2_uc010pmd.1_Intron	p.G168D	NM_001460	NP_001451	Q99518	FMO2_HUMAN			5	620	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		168					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.503G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	34	5.391375	0.95988	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.68765	-0.35;-0.35	6.17	6.17	0.99709	.	0.045941	0.85682	D	0.000000	D	0.87030	0.6076	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89363	0.3669	10	0.87932	D	0	-21.6135	19.6509	0.95805	0.0:0.0:1.0:0.0	.	168	Q99518	FMO2_HUMAN	D	168	ENSP00000209929:G168D;ENSP00000405905:G168D	ENSP00000209929:G168D	G	+	2	0	FMO2	169435127	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.727000	0.98787	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.448	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		10	132	10	132	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173526509	173526509	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:173526509G>T	ENST00000367714.3	-	10	1607	c.1185C>A	c.(1183-1185)ctC>ctA	p.L395L	SLC9C2_ENST00000536496.1_Silent_p.L293L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	395					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.L395L(2)									TTCGTTCAGCGAGATTATAAA	0.348																																						uc001giz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1183-1185)CTC>CTA		solute carrier family 9, member 11							107.0	118.0	114.0					1																	173526509		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526509G>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1185C>A	1.37:g.173526509G>T						SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	p.L395L	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			10	1608	-			395					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.1185C>A	CCDS1308.1																																																																																				PASS	0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		75	127	75	127	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173916691	173916691	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:173916691C>A	ENST00000367696.2	-	15	2904	c.2553G>T	c.(2551-2553)caG>caT	p.Q851H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q851H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q851H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	851					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q851H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GATCTAATCGCTGGTCCCTCA	0.438																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2551-2553)CAG>CAT		roquin							124.0	126.0	125.0					1																	173916691		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173916691C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2553G>T	1.37:g.173916691C>A	ENSP00000356669:p.Gln851His					RC3H1_uc010pms.1_Missense_Mutation_p.Q851H|RC3H1_uc001gjv.2_Missense_Mutation_p.Q851H|RC3H1_uc010pmt.1_Missense_Mutation_p.Q851H	p.Q851H	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			14	2640	-			851					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2553G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	0.176	-1.067080	0.01934	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.43688	0.94;0.94;0.94	5.93	3.0	0.34707	.	0.344112	0.34088	N	0.004277	T	0.08313	0.0207	L	0.28274	0.84	0.22479	N	0.999063	B;B;B;B	0.15473	0.007;0.007;0.013;0.007	B;B;B;B	0.17433	0.008;0.008;0.018;0.008	T	0.39231	-0.9624	10	0.05525	T	0.97	-4.5817	9.4222	0.38559	0.0:0.645:0.0:0.355	.	851;851;851;851	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	851	ENSP00000356669:Q851H;ENSP00000258349:Q851H;ENSP00000356667:Q851H	ENSP00000258349:Q851H	Q	-	3	2	RC3H1	172183314	0.001000	0.12720	0.437000	0.26809	0.858000	0.48976	-0.172000	0.09868	0.370000	0.24538	-0.216000	0.12614	CAG		PASS	0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		37	121	37	121	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179562999	179562999	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:179562999G>C	ENST00000367614.1	+	3	996	c.637G>C	c.(637-639)Gca>Cca	p.A213P	TDRD5_ENST00000294848.8_Missense_Mutation_p.A213P|TDRD5_ENST00000444136.1_Missense_Mutation_p.A213P|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	213					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.A213P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGATGTCCAGCAGGTACGCA	0.468																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(637-639)GCA>CCA		tudor domain containing 5							64.0	64.0	64.0					1																	179562999		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562999G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.637G>C	1.37:g.179562999G>C	ENSP00000356586:p.Ala213Pro					TDRD5_uc010pnp.1_Missense_Mutation_p.A213P	p.A213P	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			3	887	+			213			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.637G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979150	0.34942	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.13420	2.59;2.59;2.74	5.79	2.88	0.33553	.	0.812478	0.10722	N	0.641625	T	0.09158	0.0226	N	0.24115	0.695	0.27884	N	0.939576	B;B	0.24823	0.112;0.068	B;B	0.20955	0.032;0.014	T	0.31194	-0.9952	10	0.44086	T	0.13	-15.0831	6.0867	0.19970	0.1606:0.2933:0.5461:0.0	.	213;213	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	P	213	ENSP00000356586:A213P;ENSP00000294848:A213P;ENSP00000406052:A213P	ENSP00000294848:A213P	A	+	1	0	TDRD5	177829622	0.005000	0.15991	0.983000	0.44433	0.595000	0.36748	0.383000	0.20651	0.350000	0.24002	0.655000	0.94253	GCA		PASS	0.468	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		57	71	57	71	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181764045	181764045	+	Silent	SNP	C	C	A	rs541743081		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:181764045C>A	ENST00000367573.2	+	46	6073	c.6073C>A	c.(6073-6075)Cgg>Agg	p.R2025R	CACNA1E_ENST00000367567.4_Silent_p.R1589R|CACNA1E_ENST00000358338.5_Silent_p.R1914R|CACNA1E_ENST00000367570.1_Silent_p.R1982R|CACNA1E_ENST00000360108.3_Silent_p.R2006R|CACNA1E_ENST00000526775.1_Silent_p.R1963R|CACNA1E_ENST00000357570.5_Silent_p.R1976R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2025					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R1982R(1)|p.R2025R(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCCACTATTCGGGATAAGCG	0.473																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5944-5946)CGG>AGG		calcium channel, voltage-dependent, R type,							80.0	76.0	78.0					1																	181764045		1908	4129	6037	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181764045C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6073C>A	1.37:g.181764045C>A						CACNA1E_uc009wxs.2_Silent_p.R1870R|CACNA1E_uc009wxt.2_Silent_p.R1251R	p.R1982R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			45	6109	+			2025			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5944C>A	CCDS55664.1																																																																																				PASS	0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		35	79	35	79	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186275939	186275939	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:186275939C>A	ENST00000445192.2	+	7	1133	c.1088C>A	c.(1087-1089)cCc>cAc	p.P363H	PRG4_ENST00000367485.4_Missense_Mutation_p.P270H|PRG4_ENST00000367483.4_Missense_Mutation_p.P322H|PRG4_ENST00000367484.3_Missense_Mutation_p.P322H|PRG4_ENST00000367486.3_Missense_Mutation_p.P320H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	363	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P363H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCTACCACACCCAAAGAGCCC	0.597																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1087-1089)CCC>CAC		proteoglycan 4 isoform A							179.0	177.0	178.0					1																	186275939		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275939C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1088C>A	1.37:g.186275939C>A	ENSP00000399679:p.Pro363His					PRG4_uc001grt.3_Missense_Mutation_p.P322H|PRG4_uc009wyl.2_Missense_Mutation_p.P270H|PRG4_uc009wym.2_Missense_Mutation_p.P229H|PRG4_uc010poo.1_RNA	p.P363H	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1139	+			363			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|2; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1088C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.248	0.413900	0.11870	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06294	3.35;3.36;3.45;3.32;3.45	2.14	-0.873	0.10635	.	.	.	.	.	T	0.06096	0.0158	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.49185	0.92;0.92;0.869;0.92	P;P;B;P	0.47162	0.54;0.54;0.339;0.54	T	0.39210	-0.9625	8	.	.	.	.	6.1562	0.20338	0.2109:0.583:0.2061:0.0	.	229;270;363;322	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	320;322;229;322;270;363	ENSP00000356456:P320H;ENSP00000356454:P322H;ENSP00000356453:P322H;ENSP00000356455:P270H;ENSP00000399679:P363H	.	P	+	2	0	PRG4	184542562	0.003000	0.15002	0.006000	0.13384	0.060000	0.15804	1.448000	0.35112	-0.011000	0.14247	0.177000	0.17058	CCC		PASS	0.597	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		98	284	98	284	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190423824	190423824	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:190423824C>T	ENST00000367462.3	-	2	428	c.197G>A	c.(196-198)aGa>aAa	p.R66K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E28K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	66					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.R66K(1)									CTGCCGGCTTCTGTCCACAAA	0.458																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(196-198)AGA>AAA		family with sequence similarity 5, member C							88.0	84.0	86.0					1																	190423824		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423824C>T	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.197G>A	1.37:g.190423824C>T	ENSP00000356432:p.Arg66Lys					FAM5C_uc010pot.1_Missense_Mutation_p.E28K	p.R66K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	429	-	Prostate(682;0.198)		66					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.197G>A	CCDS1373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.037|6.037	0.375223|0.375223	0.11409|0.11409	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000534846|ENST00000367462;ENST00000445957	T|T;T	0.12774|0.54479	2.65|2.38;0.57	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Membrane attack complex component/perforin (MACPF) domain (1);	.|0.057685	.|0.64402	.|D	.|0.000001	T|T	0.56247|0.56247	0.1972|0.1972	M|M	0.74258|0.74258	2.255|2.255	0.21355|0.21355	N|N	0.999713|0.999713	B|B	0.06786|0.09022	0.001|0.002	B|B	0.08055|0.08055	0.003|0.003	T|T	0.54450|0.54450	-0.8292|-0.8292	8|10	.|0.72032	.|D	.|0.01	.|.	16.7242|16.7242	0.85417|0.85417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28|66	B7Z260|Q76B58	.|FAM5C_HUMAN	K|K	28|66	ENSP00000438022:E28K|ENSP00000356432:R66K;ENSP00000393441:R66K	.|ENSP00000356432:R66K	E|R	-|-	1|2	0|0	FAM5C|FAM5C	188690447|188690447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.493000|4.493000	0.60341|0.60341	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAA|AGA		PASS	0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		5	51	5	51	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203194875	203194875	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:203194875C>T	ENST00000367229.1	-	3	213	c.179G>A	c.(178-180)gGc>gAc	p.G60D	CHIT1_ENST00000255427.3_Missense_Mutation_p.G60D|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.G70D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	60					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.G60D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTTGGTCATGCCAGCGAAGGC	0.572																																						uc001gzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GGC>GAC		chitotriosidase precursor							146.0	135.0	139.0					1																	203194875		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194875C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.179G>A	1.37:g.203194875C>T	ENSP00000356198:p.Gly60Asp					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G70D	p.G60D	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			3	275	-			60					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.179G>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183765	0.38609	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.05199	3.48;3.48;3.48	5.12	4.1	0.47936	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.268702	0.26757	N	0.022657	T	0.12433	0.0302	L	0.43598	1.365	0.34736	D	0.730253	B;P	0.35507	0.45;0.506	P;P	0.54856	0.762;0.693	T	0.11372	-1.0590	10	0.51188	T	0.08	-9.4833	4.1403	0.10189	0.0:0.6072:0.2444:0.1483	.	70;60	G5EA51;Q13231	.;CHIT1_HUMAN	D	60;60;70	ENSP00000356198:G60D;ENSP00000255427:G60D;ENSP00000438078:G70D	ENSP00000255427:G60D	G	-	2	0	CHIT1	201461498	0.747000	0.28283	0.443000	0.26883	0.583000	0.36354	0.332000	0.19751	2.365000	0.80145	0.655000	0.94253	GGC		PASS	0.572	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		4	181	4	181	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203696535	203696535	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:203696535A>G	ENST00000357681.5	+	20	4268	c.3145A>G	c.(3145-3147)Ata>Gta	p.I1049V	ATP2B4_ENST00000341360.2_Missense_Mutation_p.I1049V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I1037V|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I1013V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I1049V|SNORA77_ENST00000408716.1_RNA	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1049					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.I1049V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCTCCGCAATACCTACCCG	0.542																																						uc001gzw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3145-3147)ATA>GTA		plasma membrane calcium ATPase 4 isoform 4b							113.0	108.0	109.0					1																	203696535		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203696535A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3145A>G	1.37:g.203696535A>G	ENSP00000350310:p.Ile1049Val					ATP2B4_uc001gzv.2_Missense_Mutation_p.I1049V|ATP2B4_uc009xaq.2_Missense_Mutation_p.I1049V|ATP2B4_uc001gzx.2_Missense_Mutation_p.I80V|ATP2B4_uc009xar.2_Missense_Mutation_p.I44V|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	p.I1049V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		20	4029	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1049			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3145A>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159818	0.38119	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95272	-2.51;-2.51;-2.51;-3.66;-2.51	5.65	3.38	0.38709	ATPase, P-type,  transmembrane domain (1);	0.000000	0.56097	D	0.000032	D	0.90532	0.7033	L	0.49350	1.555	0.50171	D	0.999859	B;B;B	0.21821	0.007;0.048;0.061	B;B;B	0.25291	0.017;0.059;0.022	D	0.86441	0.1767	10	0.35671	T	0.21	-11.8728	7.4276	0.27109	0.812:0.0:0.188:0.0	.	1049;1049;1049	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	1049;1049;1037;1013;1049	ENSP00000350310:I1049V;ENSP00000356187:I1049V;ENSP00000356188:I1037V;ENSP00000375816:I1013V;ENSP00000340930:I1049V	ENSP00000340930:I1049V	I	+	1	0	ATP2B4	201963158	0.911000	0.30947	0.922000	0.36590	0.800000	0.45204	1.861000	0.39438	2.149000	0.67028	0.454000	0.30748	ATA		PASS	0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		76	81	76	81	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216040426	216040426	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:216040426C>G	ENST00000307340.3	-	44	9154	c.8768G>C	c.(8767-8769)gGt>gCt	p.G2923A	USH2A_ENST00000366943.2_Missense_Mutation_p.G2923A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2923	Fibronectin type-III 15. {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.G2923A(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)		CTCTGGAAGACCAGCTAACGT	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.(8767-8769)GGT>GCT		usherin isoform B							154.0	126.0	135.0					1																	216040426		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.chr1:216040426C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8768G>C	1.37:g.216040426C>G	ENSP00000305941:p.Gly2923Ala	HNSCC(13;0.011)					p.G2923A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9155	-			2923			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8768G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740553	0.89573	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.51325	0.71;0.71	5.72	3.82	0.43975	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000526	T	0.65852	0.2731	M	0.82323	2.585	0.37682	D	0.923539	D	0.89917	1.0	D	0.87578	0.998	T	0.68138	-0.5488	10	0.15066	T	0.55	.	11.0136	0.47677	0.0:0.8:0.1304:0.0696	.	2923	O75445	USH2A_HUMAN	A	2923	ENSP00000305941:G2923A;ENSP00000355910:G2923A	ENSP00000305941:G2923A	G	-	2	0	USH2A	214107049	0.930000	0.31532	0.028000	0.17463	0.899000	0.52679	4.085000	0.57657	0.743000	0.32719	0.557000	0.71058	GGT		PASS	0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		29	79	29	79	---	---	---	---
DNAH14	127602	broad.mit.edu	37	1	225147866	225147866	+	Intron	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:225147866G>A	ENST00000445597.2	+	6	748				DNAH14_ENST00000366850.3_Missense_Mutation_p.E77K|DNAH14_ENST00000366849.1_Missense_Mutation_p.E77K|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000366848.1_Missense_Mutation_p.E77K|DNAH14_ENST00000400952.3_Missense_Mutation_p.E77K|DNAH14_ENST00000430092.1_Missense_Mutation_p.E77K|DNAH14_ENST00000439375.2_Missense_Mutation_p.E77K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E77K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTACCTTAGAGAAAGTATAAT	0.348																																						uc001how.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(229-231)GAA>AAA		dynein, axonemal, heavy polypeptide 14 isoform							74.0	67.0	69.0					1																	225147866		1827	4077	5904	SO:0001627	intron_variant	127602				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity	g.chr1:225147866G>A	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.749-4315G>A	1.37:g.225147866G>A						DNAH14_uc001hou.3_Missense_Mutation_p.E77K|DNAH14_uc001hot.3_Missense_Mutation_p.E77K|DNAH14_uc001hov.3_Missense_Mutation_p.E77K	p.E77K	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN			4	444	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37	c.229G>A		.	.	.	.	.	.	.	.	.	.	G	3.838	-0.034433	0.07543	.	.	ENSG00000185842	ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	T;T;T;T;T;T	0.40476	1.16;1.31;1.03;1.07;1.31;1.16	4.29	1.22	0.21188	.	0.624487	0.13259	N	0.401401	T	0.26159	0.0638	.	.	.	0.09310	N	1	B;B;B	0.22909	0.004;0.077;0.009	B;B;B	0.23419	0.007;0.046;0.018	T	0.19647	-1.0299	9	0.41790	T	0.15	.	3.109	0.06351	0.1028:0.1824:0.5409:0.1739	.	77;77;77	Q0VDD8-4;Q0VDD8-3;Q0VDD8-2	.;.;.	K	77	ENSP00000414402:E77K;ENSP00000355815:E77K;ENSP00000383737:E77K;ENSP00000355814:E77K;ENSP00000355813:E77K;ENSP00000392061:E77K	ENSP00000355813:E77K	E	+	1	0	DNAH14	223214489	0.678000	0.27586	0.001000	0.08648	0.339000	0.28857	0.313000	0.19415	0.131000	0.18576	0.609000	0.83330	GAA		PASS	0.348	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166		5	33	5	33	---	---	---	---
WNT3A	89780	broad.mit.edu	37	1	228210498	228210498	+	Missense_Mutation	SNP	G	G	A	rs548478697		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:228210498G>A	ENST00000284523.1	+	2	280	c.202G>A	c.(202-204)Gag>Aag	p.E68K	WNT3A_ENST00000366753.2_Missense_Mutation_p.E68K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	68					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.E68K(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAGCGTGGCCGAGGGCATCAA	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17521	0.0		0.001	False		,,,				2504	0.0					uc001hrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)GAG>AAG		wingless-type MMTV integration site family,							57.0	55.0	55.0					1																	228210498		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210498G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.202G>A	1.37:g.228210498G>A	ENSP00000284523:p.Glu68Lys					WNT3A_uc001hrp.1_Missense_Mutation_p.E68K	p.E68K	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	280	+		Prostate(94;0.0405)	68					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.202G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643004	0.87859	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75477	-0.94;-0.94	4.47	4.47	0.54385	.	0.185184	0.45867	D	0.000323	T	0.74846	0.3770	L	0.45352	1.415	0.80722	D	1	D;B	0.53462	0.96;0.432	P;B	0.50896	0.653;0.105	T	0.74887	-0.3511	10	0.36615	T	0.2	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	68;68	P56704;Q3SY79	WNT3A_HUMAN;.	K	68	ENSP00000284523:E68K;ENSP00000355715:E68K	ENSP00000284523:E68K	E	+	1	0	WNT3A	226277121	1.000000	0.71417	0.943000	0.38184	0.954000	0.61252	7.531000	0.81973	2.311000	0.77944	0.586000	0.80456	GAG		PASS	0.667	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		19	123	19	123	---	---	---	---
CCSAP	126731	broad.mit.edu	37	1	229462485	229462485	+	Splice_Site	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:229462485C>A	ENST00000366687.1	-	2	687	c.636G>T	c.(634-636)gaG>gaT	p.E212D	CCSAP_ENST00000284617.2_Splice_Site_p.E212D|CCSAP_ENST00000366686.1_Splice_Site_p.E98D|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	212					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)		p.E212D(1)									CAGAGCGCACCTCGTGCACAG	0.562																																						uc001htl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GAG>GAT		hypothetical protein LOC126731							151.0	124.0	133.0					1																	229462485		2203	4300	6503	SO:0001630	splice_region_variant	126731					centrosome		g.chr1:229462485C>A	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.636+1G>T	1.37:g.229462485C>A						C1orf96_uc009xfc.2_RNA	p.E212D	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN			3	714	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	212					A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.636G>T	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925363	0.52759	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.55413	0.52;0.52;0.58	5.34	5.34	0.76211	.	0.052643	0.85682	D	0.000000	T	0.64627	0.2615	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.66019	-0.6027	9	.	.	.	-24.4905	8.216	0.31511	0.0:0.8652:0.0:0.1348	.	212	Q6IQ19	CA096_HUMAN	D	212;212;98	ENSP00000355648:E212D;ENSP00000284617:E212D;ENSP00000355647:E98D	.	E	-	3	2	C1orf96	227529108	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	2.250000	0.43178	2.508000	0.84585	0.655000	0.94253	GAG		PASS	0.562	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257	Missense_Mutation	20	232	20	232	---	---	---	---
AGT	183	broad.mit.edu	37	1	230846075	230846075	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:230846075C>A	ENST00000366667.4	-	2	736	c.522G>T	c.(520-522)cgG>cgT	p.R174R	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	174					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.R174R(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGCATCCAGCCGGGAGGTGC	0.632																																						uc001hty.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(520-522)CGG>CGT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						61.0	51.0	54.0					1																	230846075		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846075C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.522G>T	1.37:g.230846075C>A						AGT_uc009xfe.2_Silent_p.R174R|AGT_uc009xff.2_Silent_p.R146R	p.R174R	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1030	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	174					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.522G>T	CCDS1585.1																																																																																				PASS	0.632	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		37	98	37	98	---	---	---	---
COA6	388753	broad.mit.edu	37	1	234509501	234509501	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:234509501G>T	ENST00000366613.1	+	1	73	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366612.1_5'UTR|COA6_ENST00000366615.4_Intron	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	13						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)	p.G13W(1)									CCCGAGCCGCGGGTTCCTCTT	0.642																																						uc001hwc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GGG>TGG		hypothetical protein LOC388753							57.0	62.0	60.0					1																	234509501		2203	4300	6503	SO:0001583	missense	388753					mitochondrion	cytochrome-c oxidase activity	g.chr1:234509501G>T		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.37G>T	1.37:g.234509501G>T	ENSP00000355572:p.Gly13Trp					C1orf31_uc001hwb.2_Intron	p.G13W	NM_001012985	NP_001013003	Q5JTJ3	CA031_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		1	73	+	Ovarian(103;0.0339)	all_cancers(173;0.241)|Prostate(94;0.0353)	13					Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.37G>T	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207739	0.22205	.	.	ENSG00000168275	ENST00000366613	.	.	.	2.79	0.546	0.17196	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.20926	N	0.999821	D	0.58620	0.983	P	0.58172	0.834	T	0.10543	-1.0625	8	0.62326	D	0.03	.	4.48	0.11762	0.4088:0.0:0.5912:0.0	.	13	Q5JTJ3	CA031_HUMAN	W	13	.	ENSP00000355572:G13W	G	+	1	0	C1orf31	232576124	0.001000	0.12720	0.013000	0.15412	0.008000	0.06430	-0.059000	0.11731	0.128000	0.18479	-0.345000	0.07892	GGG		PASS	0.642	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		51	85	51	85	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243471409	243471409	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:243471409G>A	ENST00000366541.3	+	8	977	c.859G>A	c.(859-861)Gct>Act	p.A287T	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.A142T|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.A244T|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.A287T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	287	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.A287T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTGAAATGTGCTCAGCATGA	0.403																																						uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GCT>ACT		serologically defined colon cancer antigen 8							257.0	216.0	230.0					1																	243471409		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243471409G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.859G>A	1.37:g.243471409G>A	ENSP00000355499:p.Ala287Thr					SDCCAG8_uc010pyk.1_Missense_Mutation_p.A142T|SDCCAG8_uc010pyl.1_Missense_Mutation_p.A99T|SDCCAG8_uc001hzx.2_Missense_Mutation_p.A99T	p.A287T	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	8	1015	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	287			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.859G>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584142	0.65992	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.6	4.64	0.57946	.	0.163598	0.53938	D	0.000046	T	0.47377	0.1442	M	0.70275	2.135	0.47698	D	0.999493	D;P	0.64830	0.994;0.921	P;P	0.60949	0.881;0.658	T	0.24905	-1.0147	10	0.14252	T	0.57	-1.2441	14.4863	0.67619	0.0:0.0:0.8541:0.1459	.	244;287	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	T	244;287;287;142;67	ENSP00000348137:A244T;ENSP00000375721:A287T;ENSP00000355499:A287T;ENSP00000341260:A142T;ENSP00000410200:A67T	ENSP00000341260:A142T	A	+	1	0	SDCCAG8	241538032	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.701000	0.68325	2.805000	0.96524	0.650000	0.86243	GCT		PASS	0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		35	291	35	291	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419893	247419893	+	IGR	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:247419893C>A								RP11-488L18.8 (14768 upstream) : Y_RNA (38243 downstream)																							CTCATGGGTCCTCAACATGTT	0.488																																						uc010pyu.1																			0					0						c.(520-522)CTC>ATC		vomeronasal 1 receptor 5							252.0	244.0	246.0					1																	247419893		2015	4196	6211	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419893C>A																													1.37:g.247419893C>A							p.L174I	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	520	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	174			Helical; Name=5; (Potential).			Missense_Mutation	SNP		37	c.520C>A																																																																																				0	PASS	0.488									112	323	112	323	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247654487	247654487	+	RNA	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:247654487C>A	ENST00000522351.1	+	0	118							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.R20R(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)			CTCTTCTGATCGGCCTGGACT	0.463																																						uc001icz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(58-60)CGG>AGG		olfactory receptor, family 2, subfamily W,							160.0	148.0	152.0					1																	247654487		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654487C>A			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.247654487C>A							p.R20R	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	58	+	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)	20					B9EH85	Silent	SNP	ENST00000522351.1	37	c.58C>A																																																																																					PASS	0.463	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		40	111	40	111	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487077	248487077	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:248487077T>A	ENST00000317965.2	-	1	822	c.794A>T	c.(793-795)cAt>cTt	p.H265L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H265L(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)			AGGAGAATGATGAGATGTGGG	0.478																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(793-795)CAT>CTT		olfactory receptor, family 2, subfamily M,							155.0	140.0	145.0					1																	248487077		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487077T>A	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.794A>T	1.37:g.248487077T>A	ENSP00000324557:p.His265Leu						p.H265L	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	794	-	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)		265			Extracellular (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.794A>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.535000	0.00942	.	.	ENSG00000177186	ENST00000317965	T	0.00054	8.8	1.55	0.394	0.16299	GPCR, rhodopsin-like superfamily (1);	3.732530	0.01272	U	0.009489	T	0.00073	0.0002	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20075	-1.0286	10	0.25751	T	0.34	.	2.2542	0.04051	0.3531:0.342:0.0:0.3049	.	265	Q8NG81	OR2M7_HUMAN	L	265	ENSP00000324557:H265L	ENSP00000324557:H265L	H	-	2	0	OR2M7	246553700	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.060000	0.14342	0.708000	0.31955	0.163000	0.16589	CAT		PASS	0.478	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		101	120	101	120	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1497666	1497666	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:1497666A>G	ENST00000345913.4	+	11	1952	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E	TPO_ENST00000349624.3_Missense_Mutation_p.K448E|TPO_ENST00000346956.3_Missense_Mutation_p.K621E|TPO_ENST00000329066.4_Missense_Mutation_p.K621E|TPO_ENST00000382201.3_Missense_Mutation_p.K564E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.K621E|TPO_ENST00000382198.1_Missense_Mutation_p.K448E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	621					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.K621E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTGGCCGACAAGATCCTGGA	0.607																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1861-1863)AAG>GAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						77.0	72.0	74.0					2																	1497666		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497666A>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1861A>G	2.37:g.1497666A>G	ENSP00000318820:p.Lys621Glu					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.K564E|TPO_uc002qwr.2_Missense_Mutation_p.K621E|TPO_uc002qwx.2_Missense_Mutation_p.K564E|TPO_uc010yio.1_Missense_Mutation_p.K448E|TPO_uc010yip.1_Missense_Mutation_p.K621E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.K621E	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1952	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	621			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1861A>G	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965193	0.34659	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.84	2.38	0.29361	.	0.177008	0.64402	D	0.000012	T	0.75975	0.3923	M	0.72479	2.2	0.31711	N	0.639524	P;B;P;D	0.53462	0.492;0.137;0.492;0.96	B;B;B;P	0.59546	0.324;0.039;0.276;0.859	T	0.79203	-0.1900	10	0.72032	D	0.01	-18.5214	11.8079	0.52165	0.7058:0.2941:0.0:0.0	.	621;448;564;621	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	E	621;621;621;448;621;564;448;550;95	ENSP00000337263:K621E;ENSP00000318820:K621E;ENSP00000263886:K621E;ENSP00000332044:K448E;ENSP00000329869:K621E;ENSP00000371636:K564E;ENSP00000371633:K448E;ENSP00000405788:K550E;ENSP00000419461:K95E	ENSP00000329869:K621E	K	+	1	0	TPO	1476673	0.880000	0.30214	0.000000	0.03702	0.004000	0.04260	3.547000	0.53663	0.270000	0.21984	0.459000	0.35465	AAG		PASS	0.607	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		76	24	76	24	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15746377	15746377	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:15746377C>T	ENST00000381341.2	+	13	1195	c.806C>T	c.(805-807)tCa>tTa	p.S269L	DDX1_ENST00000233084.3_Missense_Mutation_p.S269L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.S269L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ATTGTCAAATCACAGCACTCA	0.398																																						uc002rce.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(805-807)TCA>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							65.0	60.0	62.0					2																	15746377		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15746377C>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.806C>T	2.37:g.15746377C>T	ENSP00000370745:p.Ser269Leu					DDX1_uc010yjq.1_Missense_Mutation_p.S177L	p.S269L	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	12	1094	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	269			Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.806C>T	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260946	0.59431	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.41758	0.99;0.99	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.52019	-0.8631	10	0.10377	T	0.69	-10.0292	19.5245	0.95199	0.0:1.0:0.0:0.0	.	269	Q92499	DDX1_HUMAN	L	269;269;253	ENSP00000370745:S269L;ENSP00000233084:S269L	ENSP00000233084:S269L	S	+	2	0	DDX1	15663828	1.000000	0.71417	0.393000	0.26258	0.048000	0.14542	7.742000	0.85008	2.608000	0.88229	0.655000	0.94253	TCA		PASS	0.398	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		49	244	49	244	---	---	---	---
APOB	338	broad.mit.edu	37	2	21235356	21235356	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:21235356C>T	ENST00000233242.1	-	26	4511	c.4384G>A	c.(4384-4386)Gga>Aga	p.G1462R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1462					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G1462R(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGTGGTCCCCAGGAACTA	0.378																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4384-4386)GGA>AGA		apolipoprotein B precursor	Atorvastatin(DB01076)						118.0	120.0	119.0					2																	21235356		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235356C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4384G>A	2.37:g.21235356C>T	ENSP00000233242:p.Gly1462Arg						p.G1462R	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4512	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1462					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4384G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923144	0.92319	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01505	4.82	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000007	T	0.11367	0.0277	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.00121	-1.2029	10	0.87932	D	0	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	1462	P04114	APOB_HUMAN	R	1462	ENSP00000233242:G1462R	ENSP00000233242:G1462R	G	-	1	0	APOB	21088861	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.159000	0.77483	2.633000	0.89246	0.655000	0.94253	GGA		PASS	0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	224	23	224	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24435597	24435597	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:24435597C>A	ENST00000355123.4	-	33	4454	c.4011G>T	c.(4009-4011)cgG>cgT	p.R1337R	AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA|ITSN2_ENST00000361999.3_Silent_p.R1310R|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1337	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.R1336R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTTTACACCGCGGGTCAG	0.542																																						uc002rfe.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4009-4011)CGG>CGT		intersectin 2 isoform 1							105.0	104.0	105.0					2																	24435597		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24435597C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4011G>T	2.37:g.24435597C>A						ITSN2_uc002rff.2_Silent_p.R1310R	p.R1337R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			33	4269	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1337			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4011G>T	CCDS1710.2																																																																																				PASS	0.542	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		86	282	86	282	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24435600	24435600	+	Silent	SNP	C	C	A	rs146758206	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:24435600C>A	ENST00000355123.4	-	33	4451	c.4008G>T	c.(4006-4008)ccG>ccT	p.P1336P	AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA|ITSN2_ENST00000361999.3_Silent_p.P1309P|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.P1335P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542																																						uc002rfe.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4006-4008)CCG>CCT		intersectin 2 isoform 1							97.0	97.0	97.0					2																	24435600		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24435600C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4008G>T	2.37:g.24435600C>A						ITSN2_uc002rff.2_Silent_p.P1309P	p.P1336P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			33	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1336			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4008G>T	CCDS1710.2																																																																																				PASS	0.542	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		80	264	80	264	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523041	25523041	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:25523041C>A	ENST00000264709.3	-	3	481	c.144G>T	c.(142-144)gtG>gtT	p.V48V	DNMT3A_ENST00000406659.3_Silent_p.V48V|DNMT3A_ENST00000321117.5_Silent_p.V48V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	48					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.V48V(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)					CAGGCCGCCCCACCTTCCGTG	0.662			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(142-144)GTG>GTT		DNA cytosine methyltransferase 3 alpha isoform							90.0	71.0	77.0					2																	25523041		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:25523041C>A		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.144G>T	2.37:g.25523041C>A						DNMT3A_uc002rgd.2_Silent_p.V48V|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.V45V|DNMT3A_uc002rgf.2_Silent_p.V48V	p.V48V	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			3	401	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		48					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.144G>T	CCDS33157.1																																																																																				PASS	0.662	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		51	139	51	139	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26684724	26684724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:26684724C>T	ENST00000272371.2	-	43	5499	c.5373G>A	c.(5371-5373)tgG>tgA	p.W1791*	OTOF_ENST00000402415.3_Nonsense_Mutation_p.W1101*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.W1791*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.W1024*|OTOF_ENST00000339598.3_Nonsense_Mutation_p.W1024*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1791					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.W1024*(1)|p.W1791*(1)|p.W1101*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGTAGCGCCAGTTGAAGT	0.597																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(5371-5373)TGG>TGA		otoferlin isoform a							209.0	162.0	178.0					2																	26684724		2203	4300	6503	SO:0001587	stop_gained	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26684724C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5373G>A	2.37:g.26684724C>T	ENSP00000272371:p.Trp1791*					OTOF_uc010yla.1_Nonsense_Mutation_p.W521*|OTOF_uc002rhh.2_Nonsense_Mutation_p.W1024*|OTOF_uc002rhi.2_Nonsense_Mutation_p.W1101*|OTOF_uc002rhj.2_Nonsense_Mutation_p.W1024*	p.W1791*	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			43	5500	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1791			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	ENST00000272371.2	37	c.5373G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	46	12.650857	0.99685	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2976	17.7626	0.88468	0.0:1.0:0.0:0.0	.	.	.	.	X	1024;1024;1101;1791;1791	.	ENSP00000272371:W1791X	W	-	3	0	OTOF	26538228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.296000	0.77279	0.561000	0.74099	TGG		PASS	0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			17	478	17	478	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32289035	32289035	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:32289035G>A	ENST00000315285.3	+	1	260	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SPAST_ENST00000345662.1_Silent_p.P45P	NM_014946.3	NP_055761.2			spastin									p.P45P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ccgAGTCGCCGCATAAGCGGA	0.711																																						uc002roc.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(133-135)CCG>CCA		spastin isoform 1							26.0	26.0	26.0					2																	32289035		2202	4300	6502	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32289035G>A	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.135G>A	2.37:g.32289035G>A						SPAST_uc002rod.2_Silent_p.P45P	p.P45P	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			1	356	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		45		P -> Q (rare polymorphism which modifies the phenotype of SPG4 disease).	Required for interaction with RTN1.|Required for nuclear localization.|Required for midbody localization.|Required for interaction with ATL1.			Silent	SNP	ENST00000315285.3	37	c.135G>A	CCDS1778.1																																																																																				PASS	0.711	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		4	93	4	93	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873862	48873862	+	Missense_Mutation	SNP	C	C	A	rs142381844		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:48873862C>A	ENST00000403751.3	+	6	696	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S924Y|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S186Y|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S924Y|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S877Y|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S924Y|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S924Y	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	220					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S924Y(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATACTTGTATCTCCTGGAAAT	0.428																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2629-2631)TCT>TAT		stonin 1							112.0	101.0	105.0					2																	48873862		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873862C>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.659C>A	2.37:g.48873862C>A	ENSP00000384597:p.Ser220Tyr					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S924Y|GTF2A1L_uc002rws.1_Missense_Mutation_p.S220Y|GTF2A1L_uc010yom.1_Missense_Mutation_p.S186Y|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S220Y	p.S877Y	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2677	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	877					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2630C>A	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443016	0.12164	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.46063	2.88;2.9;2.88;2.88;3.07;0.88	5.09	1.22	0.21188	.	0.870170	0.09883	N	0.743415	T	0.34077	0.0885	L	0.46157	1.445	0.09310	N	1	P;B;B;B;B	0.34977	0.478;0.054;0.11;0.391;0.058	B;B;B;B;B	0.35859	0.101;0.023;0.064;0.212;0.04	T	0.24048	-1.0171	10	0.48119	T	0.1	.	5.5458	0.17063	0.1939:0.6369:0.0:0.1692	.	186;877;924;220;924	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	Y	924;924;924;924;877;219;229;186;220	ENSP00000385499:S924Y;ENSP00000385701:S924Y;ENSP00000378236:S924Y;ENSP00000311493:S924Y;ENSP00000378234:S877Y;ENSP00000396702:S229Y	ENSP00000384597:S220Y	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48727366	0.000000	0.05858	0.001000	0.08648	0.255000	0.26057	-0.085000	0.11250	0.039000	0.15632	0.591000	0.81541	TCT		PASS	0.428	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		20	195	20	195	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61417463	61417463	+	Silent	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:61417463T>A	ENST00000398571.2	-	78	9892	c.9816A>T	c.(9814-9816)ctA>ctT	p.L3272L	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3272					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L3272L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATCAGACTGTAGGTTCTGAT	0.398																																						uc002sbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9814-9816)CTA>CTT		ubiquitin specific protease 34							110.0	102.0	105.0					2																	61417463		1828	4096	5924	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417463T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9816A>T	2.37:g.61417463T>A						USP34_uc002sbd.2_Silent_p.L74L	p.L3272L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		78	9838	-			3272					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.9816A>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	8.888	0.953376	0.18431	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.87	1.13	0.20643	.	.	.	.	.	T	0.45856	0.1363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	.	3.9878	0.09524	0.1245:0.0887:0.1279:0.6589	.	.	.	.	S	949	.	.	T	-	1	0	USP34	61270967	0.998000	0.40836	0.990000	0.47175	0.976000	0.68499	0.408000	0.21065	0.026000	0.15269	-0.333000	0.08304	ACA		PASS	0.398	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			325	158	325	158	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69350194	69350194	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:69350194C>T	ENST00000303714.4	+	11	1170	c.848C>T	c.(847-849)gCg>gTg	p.A283V	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A283V|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A283V	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	283					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.A283V(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTGTCCAGCGCCTATCTTA	0.433									Familial Infantile Hemangioma																													uc002sfg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(847-849)GCG>GTG		anthrax toxin receptor 1 isoform 1 precursor							126.0	132.0	130.0					2																	69350194		2203	4300	6503	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69350194C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.848C>T	2.37:g.69350194C>T	ENSP00000301945:p.Ala283Val					ANTXR1_uc002sfe.2_Missense_Mutation_p.A283V|ANTXR1_uc002sff.2_Missense_Mutation_p.A283V	p.A283V	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			11	1204	+			283			Extracellular (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.848C>T	CCDS1892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.608480|4.608480	0.87258|0.87258	.|.	.|.	ENSG00000169604|ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349|ENST00000482235	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Anthrax toxin receptor, extracellular (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.79614|0.79614	2.46|2.46	0.44711|0.44711	D|D	0.9977|0.9977	D;D;D|.	0.89917|.	0.999;0.984;1.0|.	D;P;D|.	0.67725|.	0.953;0.611;0.95|.	T|T	0.76383|0.76383	-0.2979|-0.2979	10|5	0.66056|.	D|.	0.02|.	-16.4298|-16.4298	15.2587|15.2587	0.73603|0.73603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	283;283;283|.	Q9H6X2;Q9H6X2-2;Q9H6X2-4|.	ANTR1_HUMAN;.;.|.	V|C	283|115	ENSP00000301945:A283V;ENSP00000387058:A283V;ENSP00000386494:A283V|.	ENSP00000301945:A283V|.	A|R	+|+	2|1	0|0	ANTXR1|ANTXR1	69203698|69203698	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.992000|0.992000	0.81027|0.81027	5.935000|5.935000	0.70145|0.70145	2.677000|2.677000	0.91161|0.91161	0.637000|0.637000	0.83480|0.83480	GCG|CGC		PASS	0.433	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		27	436	27	436	---	---	---	---
TIA1	7072	broad.mit.edu	37	2	70441526	70441526	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:70441526G>A	ENST00000433529.2	-	12	1199	c.989C>T	c.(988-990)cCt>cTt	p.P330L	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.P329L|TIA1_ENST00000482876.1_5'Flank|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.P319L	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	330					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.P330L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TCCATATGCAGGAACTTGCCA	0.408																																						uc002sgj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)CCT>CTT		TIA1 cytotoxic granule-associated RNA binding							109.0	95.0	100.0					2																	70441526		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70441526G>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.989C>T	2.37:g.70441526G>A	ENSP00000401371:p.Pro330Leu					TIA1_uc002sgk.3_Missense_Mutation_p.P319L|TIA1_uc002sgl.3_RNA	p.P330L	NM_022173	NP_071505	P31483	TIA1_HUMAN			12	1206	-			330					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.989C>T	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537608	0.96460	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.33438	1.66;1.85;1.75;1.41	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.97110	1.0;0.909	T	0.50110	-0.8866	10	0.41790	T	0.15	-6.1417	17.4725	0.87649	0.0:0.0:1.0:0.0	.	319;330	P31483-2;P31483	.;TIA1_HUMAN	L	330;319;407;329;101	ENSP00000401371:P330L;ENSP00000404023:P319L;ENSP00000282574:P329L;ENSP00000402263:P101L	ENSP00000282574:P329L	P	-	2	0	TIA1	70295030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.699000	0.92147	0.655000	0.94253	CCT		PASS	0.408	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		48	131	48	131	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717751	73717751	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:73717751G>C	ENST00000264448.6	+	10	8773	c.8662G>C	c.(8662-8664)Gaa>Caa	p.E2888Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2846Q|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2888					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E2888Q(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAGCTCTTTGAACAAAGCAA	0.428																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8668-8670)GAA>CAA		Alstrom syndrome 1							143.0	136.0	138.0					2																	73717751		1930	4134	6064	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717751G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8662G>C	2.37:g.73717751G>C	ENSP00000264448:p.Glu2888Gln					ALMS1_uc002sjf.1_Missense_Mutation_p.E2846Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2276Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2276Q	p.E2890Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8779	+			2888					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8668G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767162	0.69878	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.11277	2.79;2.79	4.54	4.54	0.55810	.	0.137268	0.33895	N	0.004453	T	0.24236	0.0587	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.64776	0.929;0.929;0.929	T	0.00088	-1.2090	10	0.66056	D	0.02	.	13.0959	0.59190	0.0:0.0:1.0:0.0	.	2888;2846;2888	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Q	2846;2888	ENSP00000386627:E2846Q;ENSP00000264448:E2888Q	ENSP00000264448:E2888Q	E	+	1	0	ALMS1	73571259	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.775000	0.55349	2.794000	0.96219	0.650000	0.86243	GAA		PASS	0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		353	238	353	238	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529502	80529502	+	Silent	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:80529502A>G	ENST00000295057.3	-	2	2099	c.1443T>C	c.(1441-1443)gcT>gcC	p.A481A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.A481A|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	481					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)		p.A481A(2)		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						CAGACATGGCAGCCATCTGAT	0.537										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1441-1443)GCT>GCC		leucine rich repeat transmembrane neuronal 1							144.0	118.0	127.0					2																	80529502		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529502A>G	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.1443T>C	2.37:g.80529502A>G		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.A481A	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1713	-			481			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1443T>C	CCDS1966.1																																																																																				PASS	0.537	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		58	192	58	192	---	---	---	---
ST3GAL5	8869	broad.mit.edu	37	2	86075211	86075211	+	Silent	SNP	C	C	A	rs148420220		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:86075211C>A	ENST00000377332.3	-	4	543	c.435G>T	c.(433-435)gtG>gtT	p.V145V	ST3GAL5_ENST00000393805.1_Silent_p.V117V|ST3GAL5_ENST00000393808.3_Silent_p.V122V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	145					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.V145V(1)|p.V122V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GGGCCTTCTGCACAAAAGGGA	0.498																																						uc002sqq.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(433-435)GTG>GTT		ST3 beta-galactoside alpha-2,3-sialyltransferase							287.0	288.0	288.0					2																	86075211		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86075211C>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.435G>T	2.37:g.86075211C>A						ST3GAL5_uc010fgq.1_Silent_p.V17V|ST3GAL5_uc002sqp.1_Silent_p.V122V	p.V145V	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			4	564	-			145			Lumenal (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.435G>T	CCDS1986.2																																																																																				PASS	0.498	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		6	905	6	905	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86292524	86292524	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:86292524C>A	ENST00000263857.6	-	14	2309	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Missense_Mutation_p.R644L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	644					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.R644L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAAGCAACCCCGAGTAGTCAT	0.517																																						uc002sqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1930-1932)CGG>CTG		DNA-directed RNA polymerase I A							122.0	121.0	121.0					2																	86292524		1927	4139	6066	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86292524C>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1931G>T	2.37:g.86292524C>A	ENSP00000263857:p.Arg644Leu					POLR1A_uc010ytb.1_Missense_Mutation_p.R10L	p.R644L	NM_015425	NP_056240	O95602	RPA1_HUMAN			14	2310	-			644					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1931G>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800641	0.90538	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.77877	-1.13;-1.13	5.97	5.97	0.96955	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.91509	0.7319	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92544	0.6044	10	0.87932	D	0	-19.8255	20.0343	0.97551	0.0:1.0:0.0:0.0	.	644	O95602	RPA1_HUMAN	L	644	ENSP00000263857:R644L;ENSP00000386300:R644L	ENSP00000263857:R644L	R	-	2	0	POLR1A	86146035	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	CGG		PASS	0.517	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		5	485	5	485	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95537633	95537633	+	Silent	SNP	G	G	A	rs111669261	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:95537633G>A	ENST00000295201.4	+	1	446	c.309G>A	c.(307-309)tcG>tcA	p.S103S	TEKT4_ENST00000427593.2_Silent_p.S103S|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	103					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.S103S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTGGAAGTCGGAGCTGCAGC	0.682																																						uc002stw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(307-309)TCG>TCA		tektin 4							16.0	15.0	15.0					2																	95537633		2194	4289	6483	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537633G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.309G>A	2.37:g.95537633G>A						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.S103S	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	402	+			103			Potential.			Silent	SNP	ENST00000295201.4	37	c.309G>A	CCDS2005.1																																																																																				PASS	0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		3	31	3	31	---	---	---	---
STARD7-AS1	285033	broad.mit.edu	37	2	96906072	96906072	+	RNA	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:96906072T>C	ENST00000446816.1	+	0	564																											ATGAAAAGTGTTTACAATATT	0.378																																						uc002svp.1																			0					0						c.(10-12)GTT>GCT		hypothetical protein LOC285033							64.0	61.0	62.0					2																	96906072		1861	4096	5957			285033							g.chr2:96906072T>C																													2.37:g.96906072T>C						LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron	p.V4A	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			1	96	+			4						Missense_Mutation	SNP	ENST00000446816.1	37	c.11T>C																																																																																					PASS	0.378	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			44	49	44	49	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100210027	100210027	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:100210027G>A	ENST00000409236.2	-	13	2208	c.2096C>T	c.(2095-2097)tCt>tTt	p.S699F	AFF3_ENST00000356421.2_Missense_Mutation_p.S724F|AFF3_ENST00000317233.4_Missense_Mutation_p.S699F|AFF3_ENST00000409579.1_Missense_Mutation_p.S724F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	699					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S724F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGAGGCAGAGGCAGCCAC	0.617																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2095-2097)TCT>TTT		AF4/FMR2 family, member 3 isoform 1							53.0	59.0	57.0					2																	100210027		2202	4297	6499	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210027G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2096C>T	2.37:g.100210027G>A	ENSP00000387207:p.Ser699Phe					AFF3_uc002taf.2_Missense_Mutation_p.S724F|AFF3_uc010fiq.1_Missense_Mutation_p.S699F|AFF3_uc010yvr.1_Missense_Mutation_p.S852F|AFF3_uc002tah.1_Missense_Mutation_p.S724F	p.S699F	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2332	-			699					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2096C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526046	0.27299	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.9	4.9	0.64082	.	2.485370	0.01594	N	0.021720	T	0.72334	0.3447	L	0.34521	1.04	0.09310	N	0.999999	P;B;P	0.45396	0.857;0.371;0.514	P;B;B	0.49387	0.609;0.144;0.354	T	0.67003	-0.5780	10	0.52906	T	0.07	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	852;699;724	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	F	699;724;724;699;699;852;724	ENSP00000317421:S699F;ENSP00000348793:S724F;ENSP00000386834:S724F;ENSP00000387207:S699F	ENSP00000317421:S699F	S	-	2	0	AFF3	99576459	0.001000	0.12720	0.753000	0.31225	0.177000	0.22998	0.725000	0.25970	2.275000	0.75901	0.561000	0.74099	TCT		PASS	0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		45	313	45	313	---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101582167	101582167	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:101582167C>T	ENST00000335681.5	+	10	1131	c.846C>T	c.(844-846)acC>acT	p.T282T	NPAS2_ENST00000542504.1_Silent_p.T347T	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	282	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T282T(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCTGGGAACCTCAGGCTATG	0.577																																						uc002tap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(844-846)ACC>ACT		neuronal PAS domain protein 2							164.0	147.0	153.0					2																	101582167		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101582167C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.846C>T	2.37:g.101582167C>T						NPAS2_uc010yvt.1_Silent_p.T347T	p.T282T	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			10	1132	+			282			PAS 2.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.846C>T	CCDS2048.1																																																																																				PASS	0.577	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			31	231	31	231	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116599900	116599901	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:116599900_116599901GG>TT	ENST00000410059.1	+	26	2850_2851	c.2370_2371GG>TT	c.(2368-2373)caGGaa>caTTaa	p.790_791QE>H*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.783_784QE>H*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.740_741QE>H*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.794_795QE>H*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	790						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.E791*(1)|p.Q783_E784>H*(1)|p.Q790H(1)|p.Q790_E791>H*(1)|p.Q783H(1)|p.E784*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCTACCACAGGAACCAGAAGA	0.371																																						uc002tla.1																			6	Substitution - Missense(2)|Substitution - Nonsense(2)|Complex - compound substitution(2)		lung(6)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(2368-2370)CAG>CAT|c.(2371-2373)GAA>TAA		dipeptidyl peptidase 10 isoform long																																				SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116599900G>T|g.chr2:116599901G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	Exception_encountered	2.37:g.116599900_116599901delinsTT	ENSP00000386565:p.Q790_E791delinsH*					DPP10_uc002tlb.1_Missense_Mutation_p.Q740H|DPP10_uc002tlc.1_Missense_Mutation_p.Q786H|DPP10_uc002tle.2_Missense_Mutation_p.Q794H|DPP10_uc002tlf.1_Missense_Mutation_p.Q783H|DPP10_uc002tlb.1_Nonsense_Mutation_p.E741*|DPP10_uc002tlc.1_Nonsense_Mutation_p.E787*|DPP10_uc002tle.2_Nonsense_Mutation_p.E795*|DPP10_uc002tlf.1_Nonsense_Mutation_p.E784*	p.Q790H|p.E791*	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			26	2827|2828	+			790|791			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000410059.1	37	c.2370G>T|c.2371G>T	CCDS46400.1																																																																																				PASS	0.371	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		25|26	85|86	25	85	---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120005403	120005403	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:120005403T>C	ENST00000354888.5	+	4	1145	c.641T>C	c.(640-642)gTg>gCg	p.V214A	STEAP3_ENST00000450943.2_Missense_Mutation_p.V214A|STEAP3_ENST00000393106.2_Missense_Mutation_p.V214A|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.V214A|STEAP3_ENST00000393108.2_Missense_Mutation_p.V214A|STEAP3_ENST00000393107.2_Missense_Mutation_p.V214A|STEAP3_ENST00000393110.2_Missense_Mutation_p.V224A|STEAP3_ENST00000409811.1_Missense_Mutation_p.V214A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	214					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.V214A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCTGGAAGGTGCCCACCCTG	0.642																																						uc002tlp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(640-642)GTG>GCG		dudulin 2 isoform b							77.0	73.0	74.0					2																	120005403		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005403T>C	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.641T>C	2.37:g.120005403T>C	ENSP00000346961:p.Val214Ala					STEAP3_uc002tlq.2_Missense_Mutation_p.V224A|STEAP3_uc002tlr.2_Missense_Mutation_p.V214A|STEAP3_uc010fle.2_Missense_Mutation_p.V214A	p.V214A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN			4	798	+			214			Helical; (Potential).		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.641T>C	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772642	0.49680	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	4.68	3.51	0.40186	NAD(P)-binding domain (1);	0.250941	0.33457	N	0.004892	T	0.15478	0.0373	L	0.46157	1.445	0.34127	D	0.66479	B;P;B	0.35139	0.354;0.486;0.02	B;B;B	0.35550	0.138;0.205;0.008	T	0.19976	-1.0289	9	.	.	.	-29.1561	10.9456	0.47299	0.0:0.0:0.157:0.843	.	214;224;214	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	A	214;214;214;224;214;214;214;214	ENSP00000376820:V214A;ENSP00000346961:V214A;ENSP00000396873:V214A;ENSP00000376822:V224A;ENSP00000376818:V214A;ENSP00000386510:V214A;ENSP00000376819:V214A;ENSP00000396214:V214A	.	V	+	2	0	STEAP3	119721873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.600000	0.54052	0.816000	0.34421	0.456000	0.33151	GTG		PASS	0.642	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		23	162	23	162	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122120801	122120801	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:122120801C>T	ENST00000263710.4	-	37	4542	c.4153G>A	c.(4153-4155)Gcc>Acc	p.A1385T	CLASP1_ENST00000545861.1_Missense_Mutation_p.A1092T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A1325T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A1102T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A1324T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A1341T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A1318T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1385	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.A1385T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTCAGCTCGGCGTAGTTTTTA	0.468																																						uc002tnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4153-4155)GCC>ACC		CLIP-associating protein 1 isoform 1							99.0	92.0	94.0					2																	122120801		1905	4110	6015	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122120801C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4153G>A	2.37:g.122120801C>T	ENSP00000263710:p.Ala1385Thr					CLASP1_uc010yyv.1_Missense_Mutation_p.A431T|CLASP1_uc002tmz.2_Missense_Mutation_p.A470T|CLASP1_uc002tna.2_Missense_Mutation_p.A431T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A1326T|CLASP1_uc010yza.1_Missense_Mutation_p.A1318T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.A221T	p.A1385T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			36	4543	-	Renal(3;0.0496)		1385			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.4153G>A		.	.	.	.	.	.	.	.	.	.	C	27.4	4.824153	0.90873	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.092349	0.85682	D	0.000000	T	0.78904	0.4357	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.979;0.999	T	0.73385	-0.3999	10	0.25751	T	0.34	-0.034	19.7401	0.96223	0.0:1.0:0.0:0.0	.	1318;1325;1385	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	T	1385;1341;1325;1324;1102;1318;1092	ENSP00000263710:A1385T;ENSP00000389372:A1341T;ENSP00000380717:A1325T;ENSP00000441625:A1324T;ENSP00000441770:A1102T;ENSP00000386442:A1318T;ENSP00000438620:A1092T	ENSP00000263710:A1385T	A	-	1	0	CLASP1	121837271	1.000000	0.71417	0.842000	0.33263	0.893000	0.52053	7.506000	0.81665	2.735000	0.93741	0.563000	0.77884	GCC		PASS	0.468	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		5	58	5	58	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125320836	125320836	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:125320836G>T	ENST00000431078.1	+	11	2053	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	563	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q563H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTGCTCCCAGTCCTGGACTA	0.443																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1687-1689)CAG>CAT		contactin associated protein-like 5 precursor							85.0	76.0	79.0					2																	125320836		1939	4144	6083	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125320836G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1689G>T	2.37:g.125320836G>T	ENSP00000399013:p.Gln563His					CNTNAP5_uc010flu.2_Missense_Mutation_p.Q564H	p.Q563H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	11	2053	+			563			EGF-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1689G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930291	0.73327	.	.	ENSG00000155052	ENST00000431078	D	0.82803	-1.65	6.07	4.25	0.50352	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47455	D	0.000234	D	0.91912	0.7439	M	0.91354	3.2	0.58432	D	0.999992	D	0.71674	0.998	D	0.81914	0.995	D	0.93042	0.6458	10	0.87932	D	0	.	11.5032	0.50450	0.1505:0.0:0.8495:0.0	.	563	Q8WYK1	CNTP5_HUMAN	H	563	ENSP00000399013:Q563H	ENSP00000399013:Q563H	Q	+	3	2	CNTNAP5	125037306	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.319000	0.43788	1.549000	0.49425	0.655000	0.94253	CAG		PASS	0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	18	3	18	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128388470	128388470	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:128388470T>A	ENST00000409816.2	+	34	4878	c.4846T>A	c.(4846-4848)Tat>Aat	p.Y1616N	MYO7B_ENST00000409090.1_Missense_Mutation_p.Y469N|MYO7B_ENST00000389524.4_Missense_Mutation_p.Y1616N|MYO7B_ENST00000428314.1_Missense_Mutation_p.Y1616N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1616	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Y1616N(1)|p.Y1859N(1)		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)		GGAGTTCTCCTATGAGTTCTT	0.647																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(4846-4848)TAT>AAT		myosin VIIB							28.0	34.0	32.0					2																	128388470		1931	4107	6038	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128388470T>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.4846T>A	2.37:g.128388470T>A	ENSP00000386461:p.Tyr1616Asn					MYO7B_uc002tor.1_Missense_Mutation_p.Y469N	p.Y1616N	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	35	4899	+	Colorectal(110;0.1)		1616			SH3 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4846T>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	N	11.38	1.622292	0.28889	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.6	3.25	0.37280	.	0.329868	0.29653	N	0.011554	T	0.65698	0.2716	M	0.66939	2.045	0.32795	N	0.500678	P	0.50710	0.938	P	0.47470	0.548	T	0.70249	-0.4924	10	0.35671	T	0.21	.	8.0543	0.30596	0.0:0.2202:0.0:0.7798	.	1616	Q6PIF6	MYO7B_HUMAN	N	1616;1616;711;1616;469	ENSP00000374175:Y1616N;ENSP00000415090:Y1616N;ENSP00000386461:Y1616N;ENSP00000386850:Y469N	ENSP00000272666:Y711N	Y	+	1	0	MYO7B	128104940	1.000000	0.71417	0.663000	0.29738	0.456000	0.32438	2.574000	0.46016	0.427000	0.26145	0.443000	0.29094	TAT		PASS	0.647	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	19	7	19	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139310159	139310159	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:139310159G>T	ENST00000280098.4	+	5	767	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	130	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.D130Y(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCAAGGGAAGGACTGGGGTTT	0.348																																						uc002tvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(388-390)GAC>TAC		speckle-type POZ protein-like							104.0	111.0	109.0					2																	139310159		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139310159G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.388G>T	2.37:g.139310159G>T	ENSP00000280098:p.Asp130Tyr						p.D130Y	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	5	788	+			130			MATH.			Missense_Mutation	SNP	ENST00000280098.4	37	c.388G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911433	0.52439	.	.	ENSG00000144228	ENST00000280098	T	0.48836	0.8	5.33	5.33	0.75918	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52518	-0.8565	10	0.02654	T	1	-6.465	19.3737	0.94500	0.0:0.0:1.0:0.0	.	130	Q6IQ16	SPOPL_HUMAN	Y	130	ENSP00000280098:D130Y	ENSP00000280098:D130Y	D	+	1	0	SPOPL	139026629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.641000	0.89580	0.650000	0.86243	GAC		PASS	0.348	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			51	71	51	71	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990769	140990769	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:140990769C>T	ENST00000389484.3	-	91	14757	c.13786G>A	c.(13786-13788)Gag>Aag	p.E4596K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4596					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.E4596K(1)|p.E4596*(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)		GCCACTGTCTCTCTTATACCA	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(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.(13786-13788)GAG>AAG		low density lipoprotein-related protein 1B							97.0	99.0	98.0					2																	140990769		2201	4297	6498	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990769C>T	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.13786G>A	2.37:g.140990769C>T	ENSP00000374135:p.Glu4596Lys	TSP Lung(27;0.18)					p.E4596K	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)	91	14758	-		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)	4596			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13786G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589259	0.66105	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.59	5.59	0.84812	.	0.000000	0.64402	U	0.000002	D	0.94768	0.8311	L	0.48642	1.525	0.52501	D	0.999953	D	0.69078	0.997	D	0.75020	0.985	D	0.94808	0.7976	10	0.62326	D	0.03	.	19.5901	0.95506	0.0:1.0:0.0:0.0	.	4596	Q9NZR2	LRP1B_HUMAN	K	4596;4534	ENSP00000374135:E4596K	ENSP00000374135:E4596K	E	-	1	0	LRP1B	140707239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.469000	0.80959	2.626000	0.88956	0.585000	0.79938	GAG		PASS	0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	52	9	52	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162881449	162881449	+	Splice_Site	SNP	C	C	A	rs565859811	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:162881449C>A	ENST00000360534.3	-	11	1448	c.888G>T	c.(886-888)ggG>ggT	p.G296G		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	296					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G296G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AGTAGTGATCCCTggaaggaa	0.403																																						uc002ubz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(886-888)GGG>GGT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						84.0	78.0	80.0					2																	162881449		2203	4300	6503	SO:0001630	splice_region_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162881449C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.888-1G>T	2.37:g.162881449C>A						DPP4_uc010fpb.2_5'UTR	p.G296G	NM_001935	NP_001926	P27487	DPP4_HUMAN			11	1449	-			296			Extracellular (Potential).		Q53TN1	Silent	SNP	ENST00000360534.3	37	c.888G>T	CCDS2216.1																																																																																				PASS	0.403	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		Silent	71	133	71	133	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848831	166848831	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:166848831C>T	ENST00000303395.4	-	26	4953	c.4954G>A	c.(4954-4956)Gga>Aga	p.G1652R	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1624R|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1641R|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1652R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1652					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G1641R(1)|p.G1652R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTTGCTCCTTTGATCAGA	0.493																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4921-4923)GGA>AGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						116.0	113.0	114.0					2																	166848831		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848831C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4954G>A	2.37:g.166848831C>T	ENSP00000303540:p.Gly1652Arg						p.G1641R	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	4939	-			1652			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4921G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125984	0.77436	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000016	D	0.98024	0.9349	L	0.43598	1.365	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.99308	1.0903	10	0.59425	D	0.04	.	18.8986	0.92433	0.0:1.0:0.0:0.0	.	1641	P35498-2	.	R	1652;1652;1641;1624	ENSP00000407030:G1652R;ENSP00000303540:G1652R;ENSP00000364554:G1641R;ENSP00000386312:G1624R	ENSP00000303540:G1652R	G	-	1	0	SCN1A	166557077	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.701000	0.61810	2.444000	0.82710	0.650000	0.86243	GGA		PASS	0.493	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		80	135	80	135	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166892640	166892641	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:166892640_166892641GG>TT	ENST00000303395.4	-	16	3345_3346	c.3346_3347CC>AA	c.(3346-3348)CCa>AAa	p.P1116K	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1088K|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1105K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P1116K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1116					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.P1105K(1)|p.P1105T(1)|p.P1116Q(1)|p.P1116K(1)|p.P1105Q(1)|p.P1116T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACAGCAATTGGTACAGTCACA	0.366																																						uc010zcz.1																			6	Substitution - Missense(6)		lung(6)	ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CD076902	SCN1A	D		c.(3313-3315)CCA>CAA|c.(3313-3315)CCA>ACA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892640G>T|g.chr2:166892641G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3346_3347delinsTT	2.37:g.166892640_166892641delinsTT	ENSP00000303540:p.Pro1116Lys					SCN1A_uc002udo.3_Missense_Mutation_p.P985Q|SCN1A_uc010fpk.2_Missense_Mutation_p.P957Q|SCN1A_uc002udo.3_Missense_Mutation_p.P985T|SCN1A_uc010fpk.2_Missense_Mutation_p.P957T	p.P1105Q|p.P1105T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3332|3331	-			1116					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3314C>A|c.3313C>A	CCDS54413.1																																																																																				PASS	0.366	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		85|87	205	85	205	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167141025	167141025	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:167141025T>A	ENST00000409435.1	-	11	1911	c.1912A>T	c.(1912-1914)Atg>Ttg	p.M638L	SCN9A_ENST00000409672.1_Missense_Mutation_p.M638L|SCN9A_ENST00000375387.4_Missense_Mutation_p.M639L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.M639L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	638					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.M638L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGGGGAGCATGAGGGCTGAG	0.552																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1912-1914)ATG>TTG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						61.0	63.0	62.0					2																	167141025		2188	4298	6486	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141025T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1912A>T	2.37:g.167141025T>A	ENSP00000386330:p.Met638Leu					uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.M509L|SCN9A_uc002uds.1_Missense_Mutation_p.M509L|SCN9A_uc002udt.1_Missense_Mutation_p.M509L	p.M638L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2253	-			638					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1912A>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725555	0.48833	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.73	4.55	0.56014	Domain of unknown function DUF3451 (1);	0.000000	0.42682	D	0.000661	T	0.81626	0.4862	L	0.43152	1.355	0.26631	N	0.972461	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.002;0.006;0.002	T	0.62946	-0.6746	10	0.06891	T	0.86	.	2.7784	0.05354	0.1432:0.0739:0.2639:0.5189	.	638;638;639	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	L	638;639;639;638;503;503	ENSP00000386306:M638L;ENSP00000364536:M639L;ENSP00000304748:M639L;ENSP00000386330:M638L;ENSP00000413212:M503L;ENSP00000393141:M503L	ENSP00000304748:M639L	M	-	1	0	SCN9A	166849271	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.504000	0.22626	1.071000	0.40834	0.455000	0.32223	ATG		PASS	0.552	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		30	67	30	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393015	179393015	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:179393015G>A	ENST00000591111.1	-	311	102664	c.102440C>T	c.(102439-102441)tCc>tTc	p.S34147F	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35788F|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S33220F|TTN_ENST00000359218.5_Missense_Mutation_p.S26848F|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26723F|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26915F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34147	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S26723F(1)|p.S26915F(1)|p.S33220F(1)|p.S26848F(1)|p.S33218F(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)			GACCATTAAGGAAGCTGTAGC	0.413																																						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.(99658-99660)TCC>TTC		titin isoform N2-A							138.0	131.0	133.0					2																	179393015		1919	4127	6046	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393015G>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.102440C>T	2.37:g.179393015G>A	ENSP00000465570:p.Ser34147Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26915F|TTN_uc010zfi.1_Missense_Mutation_p.S26848F|TTN_uc010zfj.1_Missense_Mutation_p.S26723F|TTN_uc002umq.2_Missense_Mutation_p.S237F	p.S33220F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	99883	-			34147					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.99659C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887026	0.52014	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.97	4.97	0.65823	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70518	0.3233	N	0.20530	0.585	0.44380	D	0.997283	D;D;D;D;D	0.69078	0.987;0.987;0.987;0.994;0.997	P;P;P;D;P	0.63488	0.852;0.852;0.852;0.915;0.868	T	0.76016	-0.3113	9	0.87932	D	0	.	18.6145	0.91297	0.0:0.0:1.0:0.0	.	26723;26848;26915;34147;33220	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	F	33220;26723;26915;26848;26720	ENSP00000343764:S33220F;ENSP00000434586:S26723F;ENSP00000340554:S26915F;ENSP00000352154:S26848F	ENSP00000340554:S26915F	S	-	2	0	TTN	179101261	1.000000	0.71417	0.994000	0.49952	0.917000	0.54804	7.597000	0.82733	2.462000	0.83206	0.555000	0.69702	TCC		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	83	11	83	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544138	179544138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:179544138C>A	ENST00000591111.1	-	140	32943	c.32719G>T	c.(32719-32721)Gag>Tag	p.E10907*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E11224*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E9980*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11678	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E9980*(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)			TTAGGAACCTCAGGCACTTTA	0.378																																						uc010zfg.1																			1	Substitution - Nonsense(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.(29938-29940)GAG>TAG		titin isoform N2-A							91.0	85.0	87.0					2																	179544138		1829	4085	5914	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544138C>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.32719G>T	2.37:g.179544138C>A	ENSP00000465570:p.Glu10907*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6641*|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.E9980*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	30162	-			10907					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.29938G>T		.	.	.	.	.	.	.	.	.	.	C	60	48.631684	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9729	0.64252	0.1514:0.8486:0.0:0.0	.	.	.	.	X	9980	.	ENSP00000343764:E9980X	E	-	1	0	TTN	179252383	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	3.343000	0.52167	2.734000	0.93682	0.655000	0.94253	GAG		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	61	40	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621147	179621147	+	Intron	SNP	C	C	A	rs548665458		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:179621147C>A	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D3686Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3515Y|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron			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)			ATGAAAGAATCATCTTTTAAA	0.428																																						uc010zfh.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10543-10545)GAT>TAT		titin isoform novex-2							89.0	85.0	87.0					2																	179621147		1903	4111	6014	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621147C>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.10303+2563G>T	2.37:g.179621147C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.D3515Y	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10767	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.10543G>T		.	.	.	.	.	.	.	.	.	.	C	7.251	0.603186	0.13939	.	.	ENSG00000155657	ENST00000342175	T	0.68181	-0.31	6.1	3.3	0.37823	.	.	.	.	.	T	0.56630	0.1998	.	.	.	0.26466	N	0.975368	B	0.02656	0.0	B	0.04013	0.001	T	0.51949	-0.8640	8	0.87932	D	0	.	9.0068	0.36117	0.1216:0.752:0.0:0.1264	.	3515	E7ET18	.	Y	3515	ENSP00000340554:D3515Y	ENSP00000340554:D3515Y	D	-	1	0	TTN	179329392	0.239000	0.23836	0.014000	0.15608	0.318000	0.28184	1.435000	0.34969	0.434000	0.26340	0.650000	0.86243	GAT		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	69	23	69	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182413546	182413546	+	Missense_Mutation	SNP	C	C	T	rs190967171		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:182413546C>T	ENST00000339098.5	-	8	1011	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	CERKL_ENST00000410087.3_Missense_Mutation_p.A312T|CERKL_ENST00000374970.2_Missense_Mutation_p.A243T|CERKL_ENST00000409440.3_Missense_Mutation_p.A294T|CERKL_ENST00000374969.2_Missense_Mutation_p.A199T|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	338	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.A338T(1)|p.A312T(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGCTTGCCAGCGGTGCTGAAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19343	0.001		0.0	False		,,,				2504	0.0					uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1012-1014)GCT>ACT		ceramide kinase-like isoform b							71.0	74.0	73.0					2																	182413546		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182413546C>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1012G>A	2.37:g.182413546C>T	ENSP00000341159:p.Ala338Thr					CERKL_uc002uny.2_Missense_Mutation_p.A312T|CERKL_uc010zfm.1_Missense_Mutation_p.A294T|CERKL_uc002unz.2_Missense_Mutation_p.A60T|CERKL_uc002uoa.2_Missense_Mutation_p.A243T|CERKL_uc002uob.2_Missense_Mutation_p.A60T|CERKL_uc002uoc.2_Missense_Mutation_p.A199T|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.A107T|CERKL_uc002uoe.2_Missense_Mutation_p.A312T|CERKL_uc002unw.2_5'Flank	p.A338T	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		8	1113	-			338			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1012G>A	CCDS42789.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.659	-0.806482	0.02819	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.29917	2.21;2.51;1.55;2.49;1.55	5.62	-1.59	0.08453	Diacylglycerol kinase, catalytic domain (1);	1.025240	0.07682	N	0.937303	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.27166	0.002;0.17;0.003;0.003;0.002	B;B;B;B;B	0.15870	0.005;0.014;0.002;0.002;0.005	T	0.24012	-1.0172	10	0.13853	T	0.58	.	2.0351	0.03538	0.1018:0.2124:0.281:0.4048	.	294;199;243;312;338	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	312;294;199;338;243	ENSP00000386725:A312T;ENSP00000387080:A294T;ENSP00000364108:A199T;ENSP00000341159:A338T;ENSP00000364109:A243T	ENSP00000341159:A338T	A	-	1	0	CERKL	182121791	0.000000	0.05858	0.013000	0.15412	0.134000	0.20937	0.368000	0.20399	-0.445000	0.07159	-1.105000	0.02106	GCT		PASS	0.453	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			5	158	5	158	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196825142	196825143	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:196825142_196825143CT>AC	ENST00000312428.6	-	18	2832_2833	c.2732_2733AG>GT	c.(2731-2733)gAG>gGT	p.E911G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	911	Stem. {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.E911G(2)|p.E911D(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						CTGCATCCCACTCAGTAATCAT	0.371																																						uc002utj.3																			3	Substitution - Missense(3)		lung(3)	skin(10)|ovary(2)	12						c.(2731-2733)GAG>GAT|c.(2731-2733)GAG>GGG		dynein, axonemal, heavy chain 7																																				SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825142C>A|g.chr2:196825143T>C	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.2732_2733delinsAC	2.37:g.196825142_196825143delinsAC	ENSP00000311273:p.Glu911Gly						p.E911D|p.E911G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2834|2833	-			911			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2733G>T|c.2732A>G	CCDS42794.1																																																																																				PASS	0.371	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		103|104	182|186	103	182	---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198285797	198285797	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:198285797C>T	ENST00000335508.6	-	3	347	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SF3B1_ENST00000409915.4_Missense_Mutation_p.A86T|SF3B1_ENST00000414963.2_Missense_Mutation_p.A86T|SF3B1_ENST00000487698.1_Missense_Mutation_p.A86T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	86					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.A86T(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCACAGGGGCATGATATCCT	0.383			Mis		myelodysplastic syndrome																																	uc002uue.2				Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(256-258)GCC>ACC		splicing factor 3b, subunit 1 isoform 1							156.0	160.0	159.0					2																	198285797		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198285797C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.256G>A	2.37:g.198285797C>T	ENSP00000335321:p.Ala86Thr					SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.A86T|SF3B1_uc002uug.2_Missense_Mutation_p.A86T	p.A86T	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		3	304	-			86					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.256G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595227	0.86953	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	5.7	3.79	0.43588	.	0.054806	0.64402	D	0.000001	T	0.74635	0.3742	M	0.83774	2.66	0.80722	D	1	P;P;P	0.52692	0.59;0.59;0.955	B;B;P	0.54590	0.293;0.293;0.756	T	0.79759	-0.1668	9	0.72032	D	0.01	.	13.1962	0.59740	0.0:0.8077:0.1235:0.0688	.	86;86;86	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	T	86	.	ENSP00000335321:A86T	A	-	1	0	SF3B1	197994042	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.533000	0.67160	1.415000	0.47037	-0.152000	0.13540	GCC		PASS	0.383	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			96	189	96	189	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950232	198950232	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:198950232G>C	ENST00000428675.1	+	2	2389	c.1991G>C	c.(1990-1992)tGt>tCt	p.C664S	PLCL1_ENST00000437704.2_Missense_Mutation_p.C566S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	664	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.C664S(1)|p.C566S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATTGTGGCTGTCAGATTGTA	0.418																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1990-1992)TGT>TCT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						45.0	47.0	47.0					2																	198950232		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950232G>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1991G>C	2.37:g.198950232G>C	ENSP00000402861:p.Cys664Ser					PLCL1_uc002uuv.3_Missense_Mutation_p.C585S	p.C664S	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2282	+			664			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1991G>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470112	0.63625	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69040	-0.37;-0.37	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.078950	0.56097	N	0.000033	T	0.81216	0.4776	M	0.72353	2.195	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.80118	-0.1516	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	664;590	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	664;566	ENSP00000402861:C664S;ENSP00000414138:C566S	.	C	+	2	0	PLCL1	198658477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	TGT		PASS	0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		58	74	58	74	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215617174	215617174	+	Silent	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr2:215617174T>A	ENST00000260947.4	-	7	1808	c.1674A>T	c.(1672-1674)tcA>tcT	p.S558S	BARD1_ENST00000449967.2_Silent_p.S414S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	558	Flexible linker.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S558S(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTTACTACTGAGCAGTGGC	0.348									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(1672-1674)TCA>TCT		BRCA1 associated RING domain 1							90.0	86.0	88.0					2																	215617174		2203	4300	6503	SO:0001819	synonymous_variant	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215617174T>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1674A>T	2.37:g.215617174T>A						BARD1_uc010zjm.1_Silent_p.S414S	p.S558S	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1809	-		Renal(323;0.0243)	558			Flexible linker.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.1674A>T	CCDS2397.1																																																																																				PASS	0.348	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		36	19	36	19	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33617681	33617682	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:33617681_33617682CC>AG	ENST00000468888.2	-	24	2482_2483	c.2436_2437GG>CT	c.(2434-2439)gaGGag>gaCTag	p.812_813EE>D*	CLASP2_ENST00000461133.3_Nonsense_Mutation_p.578_579EE>D*|CLASP2_ENST00000399362.4_Nonsense_Mutation_p.811_812EE>D*|CLASP2_ENST00000359576.5_Nonsense_Mutation_p.811_812EE>D*|CLASP2_ENST00000539981.1_Nonsense_Mutation_p.581_582EE>D*|CLASP2_ENST00000307312.7_Nonsense_Mutation_p.300_301EE>D*|CLASP2_ENST00000480013.1_Nonsense_Mutation_p.599_600EE>D*			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	599					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.E811D(1)|p.E812*(1)|p.E811_E812>D*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCCACCGCCTCCTCCACATCAG	0.45																																						uc003cfu.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(2434-2436)GAG>TAG|c.(2431-2433)GAG>GAC		CLIP-associating protein 2																																				SO:0001587	stop_gained	23122							g.chr3:33617681C>A|g.chr3:33617682C>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2436_2437delinsAG	3.37:g.33617681_33617682delinsAG	ENSP00000419974:p.E812_E813delinsD*					CLASP2_uc003cfs.2_Nonsense_Mutation_p.E12*|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Nonsense_Mutation_p.E405*|CLASP2_uc003cfs.2_Missense_Mutation_p.E11D|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.E404D	p.E812*|p.E811D	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			24	2788|2787	-			813|812					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000468888.2	37	c.2434G>T|c.2433G>C																																																																																					PASS	0.450	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		63	13	63	13	---	---	---	---
ZKSCAN7	55888	broad.mit.edu	37	3	44611936	44611936	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:44611936G>C	ENST00000273320.3	+	6	1763	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G445A	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	445					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.G445A(1)									AGTGAGTGTGGAAAGGCCTAT	0.463																																						uc010hin.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1333-1335)GGA>GCA		zinc finger protein 167 isoform 1							38.0	41.0	40.0					3																	44611936		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44611936G>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1334G>C	3.37:g.44611936G>C	ENSP00000273320:p.Gly445Ala					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.G294A|ZNF167_uc003cnj.2_Missense_Mutation_p.G445A|ZNF167_uc003cnk.2_Intron	p.G445A	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1722	+			445			C2H2-type 3.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1334G>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	16.85	3.237045	0.58886	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.01464	4.86;4.86;4.86	4.35	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255087	0.20661	N	0.088035	T	0.06781	0.0173	L	0.53671	1.685	0.34912	D	0.747603	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.873	T	0.19257	-1.0311	10	0.72032	D	0.01	-11.3994	11.2169	0.48831	0.091:0.0:0.909:0.0	.	315;445	A7MAY2;Q9P0L1	.;ZN167_HUMAN	A	445;445;294	ENSP00000395524:G445A;ENSP00000273320:G445A;ENSP00000405034:G294A	ENSP00000273320:G445A	G	+	2	0	ZNF167	44586940	0.990000	0.36364	0.774000	0.31636	0.891000	0.51852	0.740000	0.26188	1.059000	0.40554	0.650000	0.86243	GGA		PASS	0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		64	27	64	27	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51263153	51263153	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:51263153G>T	ENST00000266037.9	+	15	1349	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	442	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K431N(1)|p.K442N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGTACAAAAGAATATTGAAG	0.438																																						uc011bds.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1324-1326)AAG>AAT		dedicator of cytokinesis 3							162.0	159.0	160.0					3																	51263153		1888	4120	6008	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51263153G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1326G>T	3.37:g.51263153G>T	ENSP00000266037:p.Lys442Asn						p.K442N	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	15	1349	+			442			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1326G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484059	0.84854	.	.	ENSG00000088538	ENST00000266037	T	0.14022	2.54	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.28744	-1.0034	10	0.46703	T	0.11	.	19.7077	0.96081	0.0:0.0:1.0:0.0	.	442	Q8IZD9	DOCK3_HUMAN	N	442	ENSP00000266037:K442N	ENSP00000266037:K442N	K	+	3	2	DOCK3	51238193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.733000	0.93635	0.655000	0.94253	AAG		PASS	0.438	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		106	31	106	31	---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	TAGTCGATGCGGCCGTCGTTG	0.592																																						uc003deb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CGC>TGC		troponin C, slow	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						188.0	137.0	154.0					3																	52485422		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485422G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.439C>T	3.37:g.52485422G>A	ENSP00000232975:p.Arg147Cys						p.R147C	NM_003280	NP_003271	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	5	465	-			147			3.|EF-hand 4.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.439C>T	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	TNNC1	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC		PASS	0.592	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			23	75	23	75	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74313618	74313618	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:74313618C>T	ENST00000263665.6	-	22	3048	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	1007					cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S1007S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTGGACATTCGAGATGGCTG	0.363																																						uc003dpm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(3019-3021)TCG>TCA		contactin 3 precursor							128.0	114.0	119.0					3																	74313618		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74313618C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.3021G>A	3.37:g.74313618C>T							p.S1007S	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	22	3101	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	1007					B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.3021G>A	CCDS33790.1																																																																																				PASS	0.363	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		50	38	50	38	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77671537	77671537	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:77671537C>A	ENST00000461745.1	+	23	4614	c.3714C>A	c.(3712-3714)gaC>gaA	p.D1238E	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1254E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1238E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1238					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.D1254E(1)|p.D1238E(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGCACTGGACCAGACTCCTG	0.463																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3712-3714)GAC>GAA		roundabout, axon guidance receptor, homolog 2							74.0	76.0	76.0					3																	77671537		1902	4122	6024	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671537C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3714C>A	3.37:g.77671537C>A	ENSP00000417164:p.Asp1238Glu					ROBO2_uc003dpz.2_Missense_Mutation_p.D1242E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D1242E	p.D1238E	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4357	+			1238			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3714C>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.394|1.394	-0.579967|-0.579967	0.03854|0.03854	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000475334	T;T;T|.	0.55760|.	0.5;0.53;0.59|.	5.56|5.56	2.69|2.69	0.31865|0.31865	.|.	0.299670|.	0.23303|.	N|.	0.049659|.	T|T	0.08044|0.08044	0.0201|0.0201	N|N	0.01352|0.01352	-0.895|-0.895	.|.	.|.	.|.	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.0|.	T|T	0.24261|0.24261	-1.0165|-1.0165	9|4	0.02654|.	T|.	1|.	.|.	1.8727|1.8727	0.03212|0.03212	0.2711:0.2242:0.3954:0.1093|0.2711:0.2242:0.3954:0.1093	.|.	1254;1238;1238|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	E|T	1254;1254;1238;1238|70	ENSP00000417335:D1254E;ENSP00000417164:D1238E;ENSP00000327536:D1238E|.	ENSP00000327536:D1238E|.	D|P	+|+	3|1	2|0	ROBO2|ROBO2	77754227|77754227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	0.914000|0.914000	0.28624|0.28624	0.710000|0.710000	0.31997|0.31997	0.650000|0.650000	0.86243|0.86243	GAC|CCA		PASS	0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		12	63	12	63	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391229	89391229	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:89391229C>T	ENST00000336596.2	+	5	1520	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	EPHA3_ENST00000494014.1_Missense_Mutation_p.T432I|EPHA3_ENST00000452448.2_Missense_Mutation_p.T432I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T432I(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCATCACAACTAATCAGGCT	0.463										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1294-1296)ACT>ATT		ephrin receptor EphA3 isoform a precursor							59.0	49.0	52.0					3																	89391229		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391229C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1295C>T	3.37:g.89391229C>T	ENSP00000337451:p.Thr432Ile	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.T432I|EPHA3_uc010hon.1_RNA	p.T432I	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1520	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	432			Extracellular (Potential).		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1295C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703472	0.68501	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.64803	-0.12;-0.12;-0.12	5.53	5.53	0.82687	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.85001	0.0900	9	.	.	.	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	432;432	P29320;P29320-2	EPHA3_HUMAN;.	I	432	ENSP00000337451:T432I;ENSP00000399926:T432I;ENSP00000419190:T432I	.	T	+	2	0	EPHA3	89473919	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.776000	0.85560	2.763000	0.94921	0.563000	0.77884	ACT		PASS	0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		33	18	33	18	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93845224	93845224	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:93845224G>T	ENST00000314622.4	+	6	1124	c.913G>T	c.(913-915)Gct>Tct	p.A305S		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	305							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.A305S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CTTCACATTTGCTCCCACTGG	0.453																																						uc003drl.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)GCT>TCT		NOL1/NOP2/Sun domain family, member 3							82.0	77.0	78.0					3																	93845224		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93845224G>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.913G>T	3.37:g.93845224G>T	ENSP00000318986:p.Ala305Ser						p.A305S	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			6	1029	+			305					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.913G>T	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	2.062	-0.415250	0.04766	.	.	ENSG00000178694	ENST00000314622	T	0.09255	3.0	5.9	5.02	0.67125	.	0.633028	0.16510	N	0.211300	T	0.11024	0.0269	L	0.47716	1.5	0.28132	N	0.930136	B	0.31077	0.307	B	0.20767	0.031	T	0.09164	-1.0687	10	0.21540	T	0.41	-5.8939	15.4194	0.75000	0.0:0.1139:0.7784:0.1077	.	305	Q9H649	NSUN3_HUMAN	S	305	ENSP00000318986:A305S	ENSP00000318986:A305S	A	+	1	0	NSUN3	95327914	1.000000	0.71417	0.994000	0.49952	0.040000	0.13550	3.613000	0.54152	0.840000	0.34995	-0.824000	0.03097	GCT		PASS	0.453	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		14	195	14	195	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97454806	97454806	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:97454806C>T	ENST00000389672.5	+	16	3010	c.2972C>T	c.(2971-2973)gCt>gTt	p.A991V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	897	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.A897V(1)|p.A991V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGACTTCCAGCTCCCATGGGC	0.413																																						uc010how.1																			2	Substitution - Missense(2)		lung(2)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2971-2973)GCT>GTT		EPH receptor A6 isoform a							82.0	83.0	82.0					3																	97454806		1958	4169	6127	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454806C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2972C>T	3.37:g.97454806C>T	ENSP00000374323:p.Ala991Val					EPHA6_uc003drt.2_Missense_Mutation_p.A383V|EPHA6_uc010hox.1_RNA	p.A991V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	3015	+			896			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2972C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421840	0.96111	.	.	ENSG00000080224	ENST00000389672	D	0.83163	-1.69	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84547	0.5496	N	0.10916	0.065	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87684	0.2549	9	0.87932	D	0	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	896	Q9UF33	EPHA6_HUMAN	V	991	ENSP00000374323:A991V	ENSP00000374323:A991V	A	+	2	0	EPHA6	98937496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.758000	0.94735	0.655000	0.94253	GCT		PASS	0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		78	31	78	31	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108211997	108211997	+	Missense_Mutation	SNP	C	C	T	rs372476083		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:108211997C>T	ENST00000273353.3	-	9	855	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	267	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A267T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATGCCTCTGGCACCAAAGTGC	0.433																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(799-801)GCC>ACC		myosin, heavy polypeptide 15							97.0	97.0	97.0					3																	108211997		2021	4186	6207	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211997C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.799G>A	3.37:g.108211997C>T	ENSP00000273353:p.Ala267Thr						p.A267T	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			9	856	-			267			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.799G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	4.766	0.142353	0.09083	.	.	ENSG00000144821	ENST00000273353	D	0.88277	-2.36	5.17	3.06	0.35304	Myosin head, motor domain (2);	.	.	.	.	T	0.69851	0.3157	N	0.04275	-0.24	0.18873	N	0.999981	B	0.06786	0.001	B	0.13407	0.009	T	0.57854	-0.7739	9	0.02654	T	1	.	5.3352	0.15953	0.0:0.3085:0.0:0.6915	.	267	Q9Y2K3	MYH15_HUMAN	T	267	ENSP00000273353:A267T	ENSP00000273353:A267T	A	-	1	0	MYH15	109694687	0.000000	0.05858	0.002000	0.10522	0.866000	0.49608	-0.444000	0.06854	0.526000	0.28541	0.650000	0.86243	GCC		PASS	0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		9	116	9	116	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108229345	108229346	+	Missense_Mutation	DNP	GG	GG	CT	rs372618528		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:108229345_108229346GG>CT	ENST00000273353.3	-	2	148_149	c.92_93CC>AG	c.(91-93)gCC>gAG	p.A31E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	31						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A31A(1)|p.A31E(1)|p.A31D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTGAGGAAGGCTGCGGCTTC	0.455																																						uc003dxa.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|central_nervous_system(2)	7						c.(91-93)GCC>GCG|c.(91-93)GCC>GAC		myosin, heavy polypeptide 15																																				SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108229345G>C|g.chr3:108229346G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.92_93delinsCT	3.37:g.108229345_108229346delinsCT	ENSP00000273353:p.Ala31Glu						p.A31A|p.A31D	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			2	150|149	-			31			Myosin head-like.			Silent|Missense_Mutation	SNP	ENST00000273353.3	37	c.93C>G|c.92C>A	CCDS43127.1																																																																																				PASS	0.455	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		43|45	95	43	95	---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110840989	110840989	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:110840989C>T	ENST00000485303.1	+	4	1096	c.821C>T	c.(820-822)aCa>aTa	p.T274I	PVRL3_ENST00000493615.1_Missense_Mutation_p.T251I|PVRL3_ENST00000319792.3_Missense_Mutation_p.T274I	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	274	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.T251I(1)|p.T274I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTCGGTAACAGGATATGAT	0.333																																						uc003dxt.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)	2						c.(820-822)ACA>ATA		poliovirus receptor-related 3 precursor							89.0	87.0	88.0					3																	110840989		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110840989C>T	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.821C>T	3.37:g.110840989C>T	ENSP00000418070:p.Thr274Ile					PVRL3_uc003dxu.1_Missense_Mutation_p.T251I	p.T274I	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			4	821	+			274			Extracellular (Potential).|Ig-like C2-type 2.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.821C>T	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790081	0.50102	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.15372	2.43;2.43;2.43	5.45	5.45	0.79879	Immunoglobulin-like (1);	0.483920	0.24359	N	0.039214	T	0.15219	0.0367	L	0.34521	1.04	0.35182	D	0.772563	B;B	0.27450	0.179;0.037	B;B	0.22601	0.04;0.01	T	0.12091	-1.0561	10	0.33141	T	0.24	.	16.7666	0.85525	0.0:1.0:0.0:0.0	.	251;274	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	I	274;274;251	ENSP00000418070:T274I;ENSP00000321514:T274I;ENSP00000420579:T251I	ENSP00000321514:T274I	T	+	2	0	PVRL3	112323679	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.087000	0.50167	2.562000	0.86427	0.484000	0.47621	ACA		PASS	0.333	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		11	132	11	132	---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115560723	115560723	+	Silent	SNP	C	C	A	rs574979875		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:115560723C>A	ENST00000490035.2	-	6	1387	c.888G>T	c.(886-888)ctG>ctT	p.L296L	LSAMP_ENST00000539563.1_Silent_p.L293L|LSAMP_ENST00000498645.1_5'Flank	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L296L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TGGTGACCCCCAGCTTGTTGG	0.502																																						uc003ebt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)CTG>CTT		limbic system-associated membrane protein							101.0	86.0	91.0					3																	115560723		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560723C>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.888G>T	3.37:g.115560723C>A						LSAMP_uc011bis.1_Silent_p.L296L	p.L296L	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1388	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	296			Ig-like C2-type 3.		Q8IV49	Silent	SNP	ENST00000490035.2	37	c.888G>T	CCDS2982.1																																																																																				PASS	0.502	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		96	62	96	62	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098894	133098894	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:133098894G>T	ENST00000321871.6	+	4	549	c.339G>T	c.(337-339)ctG>ctT	p.L113L	TMEM108_ENST00000393130.3_Silent_p.L113L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Silent_p.L113L	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	113	Pro-rich.					integral component of membrane (GO:0016021)		p.L113L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAAGCTCCCTGTCCACAGGGC	0.657																																						uc003eph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(337-339)CTG>CTT		transmembrane protein 108 precursor							51.0	45.0	47.0					3																	133098894		2203	4298	6501	SO:0001819	synonymous_variant	66000					integral to membrane		g.chr3:133098894G>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.339G>T	3.37:g.133098894G>T						TMEM108_uc003epi.2_Silent_p.L113L|TMEM108_uc003epj.1_Silent_p.L113L|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.L64L	p.L113L	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	613	+			113			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	ENST00000321871.6	37	c.339G>T	CCDS33858.1																																																																																				PASS	0.657	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		31	189	31	189	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134898766	134898766	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:134898766G>T	ENST00000398015.3	+	10	2194	c.1824G>T	c.(1822-1824)cgG>cgT	p.R608R	EPHB1_ENST00000493838.1_Silent_p.R169R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	608					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R608R(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGCTGTCCGGGAGTTTGCCA	0.483																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1822-1824)CGG>CGT		ephrin receptor EphB1 precursor							175.0	168.0	171.0					3																	134898766		1966	4182	6148	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134898766G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1824G>T	3.37:g.134898766G>T						EPHB1_uc003equ.2_Silent_p.R169R	p.R608R	NM_004441	NP_004432	P54762	EPHB1_HUMAN			10	2044	+			608			Cytoplasmic (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1824G>T	CCDS46921.1																																																																																				PASS	0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		64	260	64	260	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135768131	135768131	+	Silent	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:135768131T>A	ENST00000264977.3	+	5	3014	c.2397T>A	c.(2395-2397)tcT>tcA	p.S799S	PPP2R3A_ENST00000334546.2_Silent_p.S178S|PPP2R3A_ENST00000490467.1_Silent_p.S63S|PPP2R3A_ENST00000492624.2_Silent_p.S63S	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	799					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S178S(1)|p.S799S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATGCCTCTAAATTCATCT	0.373																																						uc003eqv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(2395-2397)TCT>TCA		protein phosphatase 2, regulatory subunit B'',							153.0	148.0	150.0					3																	135768131		2203	4300	6503	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135768131T>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2397T>A	3.37:g.135768131T>A						PPP2R3A_uc011blz.1_Silent_p.S63S|PPP2R3A_uc003eqw.1_Silent_p.S178S|PPP2R3A_uc011bma.1_RNA	p.S799S	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			5	2962	+			799					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.2397T>A	CCDS3087.1																																																																																				PASS	0.373	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		259	109	259	109	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142031585	142031585	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:142031585G>A	ENST00000264951.4	-	41	4790	c.4673C>T	c.(4672-4674)tCg>tTg	p.S1558L	XRN1_ENST00000392981.2_Missense_Mutation_p.S1546L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1558					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S1558L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATGAGACGACGAAGGCATTAT	0.428																																						uc003eus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4672-4674)TCG>TTG		5'-3' exoribonuclease 1 isoform a							109.0	114.0	113.0					3																	142031585		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142031585G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4673C>T	3.37:g.142031585G>A	ENSP00000264951:p.Ser1558Leu					XRN1_uc010huu.2_Missense_Mutation_p.S1012L|XRN1_uc003eut.2_Missense_Mutation_p.S1545L|XRN1_uc003euu.2_Missense_Mutation_p.S1546L	p.S1558L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			41	4740	-			1558					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.4673C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424429	0.62733	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.51;1.46	5.18	5.18	0.71444	.	0.294159	0.31963	N	0.006789	T	0.18964	0.0455	N	0.19112	0.55	0.80722	D	1	P;P	0.40681	0.727;0.607	B;B	0.26693	0.072;0.033	T	0.04551	-1.0943	10	0.37606	T	0.19	-1.8709	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1546;1558	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	L	1558;1546	ENSP00000264951:S1558L;ENSP00000376707:S1546L	ENSP00000264951:S1558L	S	-	2	0	XRN1	143514275	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	4.861000	0.62969	2.554000	0.86153	0.655000	0.94253	TCG		PASS	0.428	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		23	476	23	476	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143082377	143082377	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:143082377G>A	ENST00000316549.6	-	14	1761	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	518					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.T518M(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CTCTGCTTTCGTCATGTTTTT	0.368																																						uc003evn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1552-1554)ACG>ATG		solute carrier family 9 (sodium/hydrogen							135.0	129.0	131.0					3																	143082377		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143082377G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1553C>T	3.37:g.143082377G>A	ENSP00000320246:p.Thr518Met						p.T518M	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			14	1735	-			518					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1553C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757580	0.31137	.	.	ENSG00000181804	ENST00000316549	T	0.33438	1.41	5.71	4.83	0.62350	.	0.141423	0.48767	D	0.000167	T	0.45074	0.1324	M	0.72353	2.195	0.45718	D	0.998623	D	0.63880	0.993	P	0.51266	0.664	T	0.46652	-0.9176	10	0.44086	T	0.13	.	16.0909	0.81090	0.0:0.0:0.865:0.135	.	518	Q8IVB4	SL9A9_HUMAN	M	518	ENSP00000320246:T518M	ENSP00000320246:T518M	T	-	2	0	SLC9A9	144565067	1.000000	0.71417	0.035000	0.18076	0.040000	0.13550	5.171000	0.64996	1.408000	0.46895	-0.182000	0.12963	ACG		PASS	0.368	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		28	276	28	276	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155282752	155282752	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:155282752C>A	ENST00000340059.7	-	7	984	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	PLCH1_ENST00000494598.1_Missense_Mutation_p.V329L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V311L|PLCH1_ENST00000447496.2_Missense_Mutation_p.V329L|PLCH1_ENST00000334686.6_Missense_Mutation_p.V311L|PLCH1_ENST00000460012.1_Missense_Mutation_p.V311L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	329	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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.V311L(1)|p.V329L(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)			TACATATCCACTTTGGACTGA	0.502																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(985-987)GTG>TTG		phospholipase C eta 1 isoform a							163.0	145.0	151.0					3																	155282752		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155282752C>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.985G>T	3.37:g.155282752C>A	ENSP00000345988:p.Val329Leu					PLCH1_uc011boj.1_Missense_Mutation_p.V329L|PLCH1_uc011bol.1_Missense_Mutation_p.V311L	p.V329L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		7	1262	-			329			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.985G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021479	0.75275	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.349390	0.29892	N	0.010924	T	0.54951	0.1890	L	0.52206	1.635	0.40635	D	0.981895	P;P;B	0.41159	0.694;0.74;0.212	B;P;B	0.47430	0.412;0.547;0.253	T	0.60100	-0.7329	10	0.66056	D	0.02	.	18.5371	0.91014	0.0:1.0:0.0:0.0	.	311;329;329	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	329;311;329;329;311;311	ENSP00000419100:V329L;ENSP00000417502:V311L;ENSP00000402759:V329L;ENSP00000345988:V329L;ENSP00000335469:V311L;ENSP00000412977:V311L	ENSP00000335469:V311L	V	-	1	0	PLCH1	156765446	0.959000	0.32827	0.998000	0.56505	0.997000	0.91878	3.059000	0.49947	2.371000	0.80710	0.655000	0.94253	GTG		PASS	0.502	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		17	258	17	258	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160239695	160239695	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:160239695G>C	ENST00000334256.4	-	11	1080	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	259					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.L259V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTGTCTACCAGTATCTAATGA	0.333																																						uc003fdn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CTG>GTG		karyopherin alpha 4							62.0	62.0	62.0					3																	160239695		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160239695G>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.775C>G	3.37:g.160239695G>C	ENSP00000334373:p.Leu259Val						p.L259V	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		11	1081	-			259			ARM 5.		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.775C>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937544	0.52972	.	.	ENSG00000186432	ENST00000334256	T	0.70164	-0.46	5.3	0.0145	0.14100	Armadillo-like helical (1);Armadillo-type fold (1);	0.067939	0.64402	D	0.000013	T	0.80581	0.4650	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80299	-0.1441	10	0.62326	D	0.03	-1.5337	11.8258	0.52267	0.4778:0.0:0.5222:0.0	.	259	O00629	IMA4_HUMAN	V	259	ENSP00000334373:L259V	ENSP00000334373:L259V	L	-	1	2	KPNA4	161722389	0.987000	0.35691	0.931000	0.37212	0.712000	0.41017	0.378000	0.20569	-0.137000	0.11455	-0.254000	0.11334	CTG		PASS	0.333	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		22	138	22	138	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167750493	167750493	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:167750493C>T	ENST00000470487.1	-	9	1680	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E303K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	331	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E331K(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATGCTCCTCAGGTTCTCTG	0.527																																						uc003ffe.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(991-993)GAG>AAG		golgi integral membrane protein 4							155.0	149.0	151.0					3																	167750493		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750493C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.991G>A	3.37:g.167750493C>T	ENSP00000417354:p.Glu331Lys					GOLIM4_uc011bpe.1_Missense_Mutation_p.E331K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E303K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E303K	p.E331K	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1335	-			331			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.991G>A	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306569	0.60305	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.24	5.24	0.73138	.	0.314629	0.31221	N	0.008021	T	0.51041	0.1651	L	0.60455	1.87	0.43545	D	0.995841	P;B	0.35872	0.525;0.383	B;B	0.31101	0.124;0.124	T	0.51787	-0.8661	9	0.09843	T	0.71	-12.7003	18.46	0.90735	0.0:1.0:0.0:0.0	.	303;331	F8W785;O00461	.;GOLI4_HUMAN	K	331;303	.	ENSP00000309893:E303K	E	-	1	0	GOLIM4	169233187	0.679000	0.27596	0.923000	0.36655	0.473000	0.32948	2.488000	0.45276	2.462000	0.83206	0.549000	0.68633	GAG		PASS	0.527	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			39	641	39	641	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173996992	173996992	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:173996992G>A	ENST00000457714.1	+	6	1630	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	NLGN1_ENST00000545397.1_Missense_Mutation_p.D401N|NLGN1_ENST00000361589.4_Missense_Mutation_p.D401N|NLGN1_ENST00000401917.3_Missense_Mutation_p.D441N|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	418					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.D401N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAATATAGTAGATAGCGATGA	0.353																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1201-1203)GAT>AAT		neuroligin 1							124.0	133.0	130.0					3																	173996992		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996992G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1201G>A	3.37:g.173996992G>A	ENSP00000392500:p.Asp401Asn					NLGN1_uc010hww.1_Missense_Mutation_p.D441N|NLGN1_uc003fip.1_Missense_Mutation_p.D401N	p.D401N	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1624	+	Ovarian(172;0.0025)		418			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1201G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539850	0.65085	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.31207	0.915	0.80722	D	1	P;B	0.42337	0.776;0.138	P;B	0.45232	0.474;0.041	T	0.66404	-0.5932	10	0.54805	T	0.06	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	441;401	D2X2H5;Q8N2Q7-2	.;.	N	401;401;401;441	ENSP00000392500:D401N;ENSP00000354541:D401N;ENSP00000441108:D401N;ENSP00000385750:D441N	ENSP00000354541:D401N	D	+	1	0	NLGN1	175479686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	GAT		PASS	0.353	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		52	350	52	350	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179399767	179399767	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:179399767G>A	ENST00000263966.3	+	2	741	c.270G>A	c.(268-270)atG>atA	p.M90I	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.M25I	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	90					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.M90I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GTGTATACATGCACCTGAAAA	0.443																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)ATG>ATA		ubiquitin thiolesterase 13							143.0	142.0	142.0					3																	179399767		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179399767G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.270G>A	3.37:g.179399767G>A	ENSP00000263966:p.Met90Ile					USP13_uc003fkf.2_Missense_Mutation_p.M90I	p.M90I	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		2	351	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		90					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.270G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148816	0.78001	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.13538	2.6;2.58	5.67	5.67	0.87782	.	0.040380	0.85682	D	0.000000	T	0.16171	0.0389	L	0.40543	1.245	0.80722	D	1	B;B	0.17268	0.021;0.004	B;B	0.14578	0.011;0.007	T	0.02404	-1.1164	10	0.72032	D	0.01	-24.0017	19.353	0.94398	0.0:0.0:1.0:0.0	.	90;90	Q92995;A8K2S3	UBP13_HUMAN;.	I	90;25	ENSP00000263966:M90I;ENSP00000417146:M25I	ENSP00000263966:M90I	M	+	3	0	USP13	180882461	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.260000	0.95568	2.677000	0.91161	0.557000	0.71058	ATG		PASS	0.443	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			124	525	124	525	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179501877	179501877	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:179501877G>T	ENST00000263966.3	+	21	3011	c.2540G>T	c.(2539-2541)aGg>aTg	p.R847M	USP13_ENST00000496897.1_Missense_Mutation_p.R782M	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	847	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R847M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCCTCAGAAAGGCCCCCTAAA	0.388																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2539-2541)AGG>ATG		ubiquitin thiolesterase 13							142.0	147.0	145.0					3																	179501877		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179501877G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2540G>T	3.37:g.179501877G>T	ENSP00000263966:p.Arg847Met						p.R847M	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		21	2621	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		847					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.2540G>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934975	0.92458	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.74737	-0.87;-0.87	5.99	5.99	0.97316	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.130597	0.64402	D	0.000003	D	0.85274	0.5659	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	D	0.84981	0.0888	10	0.66056	D	0.02	-17.9636	20.4488	0.99124	0.0:0.0:1.0:0.0	.	847	Q92995	UBP13_HUMAN	M	847;782	ENSP00000263966:R847M;ENSP00000417146:R782M	ENSP00000263966:R847M	R	+	2	0	USP13	180984571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.843000	0.97960	0.655000	0.94253	AGG		PASS	0.388	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			48	791	48	791	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193132516	193132516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:193132516T>A	ENST00000342695.4	-	26	3188	c.2866A>T	c.(2866-2868)Aag>Tag	p.K956*	ATP13A4_ENST00000482964.1_5'Flank|ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.K937*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	956						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.K956*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCACCAGCTTAGGGTAGGCA	0.413																																						uc003ftd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2866-2868)AAG>TAG		ATPase type 13A4							78.0	70.0	73.0					3																	193132516		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193132516T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2866A>T	3.37:g.193132516T>A	ENSP00000339182:p.Lys956*					ATP13A4_uc010hzi.2_RNA	p.K956*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	26	2974	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		956			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.2866A>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	44	10.628003	0.99440	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	.	.	.	6.02	6.02	0.97574	.	0.068578	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9777	14.4941	0.67674	0.0:0.0:0.0:1.0	.	.	.	.	X	937;956	.	ENSP00000339182:K956X	K	-	1	0	ATP13A4	194615210	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.957000	0.49137	2.304000	0.77564	0.528000	0.53228	AAG		PASS	0.413	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		191	35	191	35	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193272586	193272586	+	Start_Codon_SNP	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr3:193272586C>T	ENST00000342695.4	-	1	325	c.3G>A	c.(1-3)atG>atA	p.M1I	ATP13A4-AS1_ENST00000426459.1_RNA|ATP13A4_ENST00000295548.3_Start_Codon_SNP_p.M1I|ATP13A4-AS1_ENST00000431512.1_RNA|ATP13A4_ENST00000392443.3_Start_Codon_SNP_p.M1I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.M1I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAAGTGTCCCATGAAAAAGT	0.517																																						uc003ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1-3)ATG>ATA		ATPase type 13A4							289.0	267.0	275.0					3																	193272586		2203	4300	6503	SO:0001582	initiator_codon_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193272586C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3G>A	3.37:g.193272586C>T	ENSP00000339182:p.Met1Ile					ATP13A4_uc003fte.1_Missense_Mutation_p.M1I|ATP13A4_uc011bsr.1_5'UTR	p.M1I	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	1	111	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1			Cytoplasmic (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3G>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891673	0.33442	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.87491	-1.58;-1.87;-2.26	5.8	5.8	0.92144	.	0.298674	0.28718	N	0.014370	D	0.92123	0.7503	.	.	.	0.80722	D	1	P;B	0.48294	0.908;0.067	D;B	0.64144	0.922;0.043	D	0.90344	0.4361	9	0.33940	T;T	0.23;0.23	-4.683	15.561	0.76244	0.0:1.0:0.0:0.0	.	1;1	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	I	1	ENSP00000376238:M1I;ENSP00000339182:M1I;ENSP00000295548:M1I	ENSP00000295548:M1I;ENSP00000295548:M1I	M	-	3	0	ATP13A4	194755280	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	3.549000	0.53681	2.755000	0.94549	0.655000	0.94253	ATG		PASS	0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	Missense_Mutation	34	475	34	475	---	---	---	---
MFSD7	84179	broad.mit.edu	37	4	680322	680322	+	Splice_Site	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:680322G>A	ENST00000404286.2	-	2	308	c.293C>T	c.(292-294)gCg>gTg	p.A98V	MFSD7_ENST00000503156.1_Splice_Site_p.A34V|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000515118.1_Splice_Site_p.A98V|MFSD7_ENST00000347950.5_Splice_Site_p.A76V|MFSD7_ENST00000322224.4_Splice_Site_p.A98V	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	98					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A98V(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CTGACTCACCGCCGCACGGAG	0.657																																						uc003gay.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GCG>GTG		major facilitator superfamily domain containing							65.0	64.0	64.0					4																	680322		2203	4300	6503	SO:0001630	splice_region_variant	84179				transmembrane transport	integral to membrane		g.chr4:680322G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.294+1C>T	4.37:g.680322G>A						MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A98V|MFSD7_uc003gaz.2_Missense_Mutation_p.A76V|MFSD7_uc003gba.2_Missense_Mutation_p.A98V|MFSD7_uc003gbb.1_Missense_Mutation_p.A34V	p.A98V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			2	350	-			98					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.293C>T		.	.	.	.	.	.	.	.	.	.	G	15.90	2.969806	0.53614	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249;ENST00000507165	T;T;T;T;T;D;T	0.95035	0.33;0.74;0.74;0.33;0.74;-3.59;0.74	4.45	2.71	0.32032	Major facilitator superfamily domain, general substrate transporter (1);	0.188792	0.45606	N	0.000345	D	0.95169	0.8434	M	0.72894	2.215	0.40195	D	0.977447	D;B;B;D;D	0.61080	0.989;0.056;0.056;0.989;0.971	P;B;B;P;P	0.59643	0.861;0.018;0.018;0.832;0.611	D	0.93478	0.6825	10	0.51188	T	0.08	-25.4331	7.5151	0.27596	0.2001:0.0:0.7999:0.0	.	34;98;76;98;98	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	V	76;98;98;98;34;98;34	ENSP00000307545:A76V;ENSP00000320234:A98V;ENSP00000384616:A98V;ENSP00000423204:A98V;ENSP00000425753:A34V;ENSP00000425038:A98V;ENSP00000424556:A34V	ENSP00000320234:A98V	A	-	2	0	MFSD7	670322	0.415000	0.25416	0.080000	0.20451	0.004000	0.04260	2.696000	0.47052	0.603000	0.29913	-0.224000	0.12420	GCG		PASS	0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219	Missense_Mutation	68	190	68	190	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3189570	3189570	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:3189570G>A	ENST00000355072.5	+	39	5327	c.5182G>A	c.(5182-5184)Gaa>Aaa	p.E1728K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1728					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.E1728K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGAACACAGTGAAGGGAAACA	0.398																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(5188-5190)GAA>AAA		huntingtin							105.0	98.0	100.0					4																	3189570		1854	4105	5959	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3189570G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5182G>A	4.37:g.3189570G>A	ENSP00000347184:p.Glu1728Lys						p.E1730K	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	40	5333	+		all_epithelial(65;0.18)	1728					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5188G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382479	0.42207	.	.	ENSG00000197386	ENST00000355072	T	0.05139	3.49	5.66	5.66	0.87406	.	0.286088	0.38663	N	0.001601	T	0.06826	0.0174	L	0.44542	1.39	0.30954	N	0.724435	B	0.18013	0.025	B	0.15484	0.013	T	0.16482	-1.0401	10	0.07325	T	0.83	.	16.0286	0.80560	0.0:0.1343:0.8657:0.0	.	1728	P42858	HD_HUMAN	K	1728	ENSP00000347184:E1728K	ENSP00000347184:E1728K	E	+	1	0	HTT	3159368	1.000000	0.71417	0.428000	0.26697	0.981000	0.71138	6.235000	0.72332	2.663000	0.90544	0.655000	0.94253	GAA		PASS	0.398	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		16	129	16	129	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056107	7056107	+	Missense_Mutation	SNP	G	G	T	rs201437381		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:7056107G>T	ENST00000310074.7	+	2	778	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	TADA2B_ENST00000515646.1_Missense_Mutation_p.V105L|TADA2B_ENST00000512388.1_Missense_Mutation_p.V122L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	197					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V197L(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						TGACGACGACGTGGAGATCGA	0.582																																						uc003gjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GTG>TTG		transcriptional adaptor 2 (ADA2 homolog,							62.0	67.0	65.0					4																	7056107		2042	4200	6242	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056107G>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.589G>T	4.37:g.7056107G>T	ENSP00000308022:p.Val197Leu					TADA2B_uc010idi.2_Missense_Mutation_p.V122L	p.V197L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	740	+			197					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.589G>T	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094668	0.08681	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.42900	1.16;0.96;0.96;0.96;0.96	5.29	5.29	0.74685	.	0.062531	0.64402	D	0.000005	T	0.17066	0.0410	N	0.00841	-1.15	0.58432	D	0.999997	B;B	0.10296	0.003;0.001	B;B	0.15484	0.013;0.002	T	0.22487	-1.0215	10	0.09590	T	0.72	-53.1011	18.9307	0.92564	0.0:0.0:1.0:0.0	.	122;197	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	L	105;197;122;105;105	ENSP00000422398:V105L;ENSP00000308022:V197L;ENSP00000423947:V122L;ENSP00000423181:V105L;ENSP00000425731:V105L	ENSP00000308022:V197L	V	+	1	0	TADA2B	7107008	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.101000	0.71479	2.481000	0.83766	0.561000	0.74099	GTG		PASS	0.582	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		69	105	69	105	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8621244	8621244	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:8621244G>T	ENST00000360986.4	+	11	2033	c.1859G>T	c.(1858-1860)cGg>cTg	p.R620L	CPZ_ENST00000429646.2_Missense_Mutation_p.R228L|CPZ_ENST00000315782.6_Missense_Mutation_p.R609L|CPZ_ENST00000382480.2_Missense_Mutation_p.R483L	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	620					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACCCGCTCCGGGCGCGCAGG	0.667																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1858-1860)CGG>CTG		carboxypeptidase Z isoform 1							29.0	32.0	31.0					4																	8621244		2200	4298	6498	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621244G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1859G>T	4.37:g.8621244G>T	ENSP00000354255:p.Arg620Leu					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R483L|CPZ_uc003glo.2_Missense_Mutation_p.R609L|CPZ_uc003glp.2_RNA	p.R620L	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			11	1985	+			620					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1859G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543643	0.45280	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.57907	0.69;2.07;0.37;1.94	4.54	2.37	0.29283	.	1.370110	0.05028	U	0.474192	T	0.42337	0.1198	L	0.36672	1.1	0.09310	N	1	P;B	0.35844	0.524;0.072	B;B	0.37508	0.252;0.03	T	0.38045	-0.9679	10	0.41790	T	0.15	-21.2162	2.3458	0.04271	0.2611:0.3425:0.3964:0.0	.	609;620	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	620;483;609;228	ENSP00000354255:R620L;ENSP00000371920:R483L;ENSP00000315074:R609L;ENSP00000403981:R228L	ENSP00000315074:R609L	R	+	2	0	CPZ	8672144	0.011000	0.17503	0.078000	0.20375	0.028000	0.11728	0.058000	0.14301	0.830000	0.34757	0.462000	0.41574	CGG		PASS	0.667	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		57	61	57	61	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9783698	9783698	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:9783698C>A	ENST00000304374.2	+	1	441	c.45C>A	c.(43-45)ttC>ttA	p.F15L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	15					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.F15L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGGGGCAGTTCGCTCTATACC	0.721																																						uc003gmb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(43-45)TTC>TTA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						5.0	6.0	6.0					4																	9783698		2136	4193	6329	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783698C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.45C>A	4.37:g.9783698C>A	ENSP00000306129:p.Phe15Leu						p.F15L	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	441	+			15			Extracellular (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.45C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.822476	0.00589	.	.	ENSG00000169676	ENST00000304374	T	0.63913	-0.07	3.63	-3.87	0.04218	.	1.021460	0.07841	N	0.963021	T	0.26484	0.0647	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20371	-1.0277	10	0.11485	T	0.65	.	5.1435	0.14971	0.1147:0.3142:0.4714:0.0997	.	15	P21918	DRD5_HUMAN	L	15	ENSP00000306129:F15L	ENSP00000306129:F15L	F	+	3	2	DRD5	9392796	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-1.383000	0.02544	-0.617000	0.05664	0.305000	0.20034	TTC		PASS	0.721	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	16	3	16	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9783701	9783701	+	Silent	SNP	T	T	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:9783701T>G	ENST00000304374.2	+	1	444	c.48T>G	c.(46-48)gcT>gcG	p.A16A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	16					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.A16A(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCAGTTCGCTCTATACCAGC	0.716																																						uc003gmb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(46-48)GCT>GCG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						5.0	6.0	6.0					4																	9783701		2137	4200	6337	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783701T>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.48T>G	4.37:g.9783701T>G							p.A16A	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	444	+			16			Extracellular (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.48T>G	CCDS3405.1																																																																																				PASS	0.716	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	16	3	16	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17827057	17827057	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:17827057G>T	ENST00000251496.2	+	11	1702	c.1526G>T	c.(1525-1527)tGc>tTc	p.C509F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	509					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.C509F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGGAAAATTGCATTACCTTA	0.318																																						uc003gpp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1525-1527)TGC>TTC		chromosome condensation protein G							43.0	47.0	46.0					4																	17827057		2202	4295	6497	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17827057G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1526G>T	4.37:g.17827057G>T	ENSP00000251496:p.Cys509Phe					NCAPG_uc011bxj.1_Missense_Mutation_p.C18F	p.C509F	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	11	1702	+			509					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1526G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485145	0.26598	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.41400	1.0;1.0	5.48	3.7	0.42460	Armadillo-type fold (1);	0.181255	0.64402	N	0.000009	T	0.31451	0.0797	L	0.58669	1.825	0.48236	D	0.999619	P	0.38473	0.633	B	0.30646	0.118	T	0.08269	-1.0730	10	0.15499	T	0.54	-2.4716	9.8709	0.41172	0.0724:0.0:0.7873:0.1402	.	509	Q9BPX3	CND3_HUMAN	F	509;72	ENSP00000251496:C509F;ENSP00000425625:C72F	ENSP00000251496:C509F	C	+	2	0	NCAPG	17436155	1.000000	0.71417	0.604000	0.28916	0.960000	0.62799	4.989000	0.63870	1.260000	0.44134	0.585000	0.79938	TGC		PASS	0.318	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		8	48	8	48	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25026481	25026481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:25026481G>C	ENST00000382114.4	-	4	559	c.374C>G	c.(373-375)tCa>tGa	p.S125*		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	125						extracellular region (GO:0005576)		p.S125*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCATTTCTTGAAATGGTTTC	0.363																																						uc003grf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(373-375)TCA>TGA		leucine-rich repeat LGI family, member 2							126.0	120.0	122.0					4																	25026481		2203	4300	6503	SO:0001587	stop_gained	55203					extracellular region		g.chr4:25026481G>C	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.374C>G	4.37:g.25026481G>C	ENSP00000371548:p.Ser125*						p.S125*	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			4	473	-		Breast(46;0.173)	125			LRR 2.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Nonsense_Mutation	SNP	ENST00000382114.4	37	c.374C>G	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.544739|7.544739	0.98348|0.98348	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.197327	.|0.46145	.|D	.|0.000316	T|.	0.76111|.	0.3942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80067|.	-0.1537|.	3|.	.|0.87932	.|D	.|0	-8.6556|-8.6556	15.8456|15.8456	0.78887|0.78887	0.0:0.135:0.865:0.0|0.0:0.135:0.865:0.0	.|.	.|.	.|.	.|.	E|X	116|125	.|.	.|ENSP00000371548:S125X	Q|S	-|-	1|2	0|0	LGI2|LGI2	24635579|24635579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.738000|5.738000	0.68613|0.68613	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|TCA		PASS	0.363	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			15	67	15	67	---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38776273	38776273	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:38776273G>A	ENST00000308973.4	-	4	1544	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TLR10_ENST00000508334.1_Silent_p.Y313Y|TLR10_ENST00000506111.1_Silent_p.Y313Y|TLR10_ENST00000361424.2_Silent_p.Y313Y|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	313					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.Y313Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCTGTTGAATGTAAAACACTC	0.338																																						uc003gti.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(937-939)TAC>TAT		toll-like receptor 10 precursor							90.0	92.0	91.0					4																	38776273		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776273G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.939C>T	4.37:g.38776273G>A						TLR10_uc003gtj.2_Silent_p.Y313Y|TLR10_uc003gtk.2_Silent_p.Y313Y	p.Y313Y	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1318	-			313			LRR 7.|Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.939C>T	CCDS3445.1																																																																																				PASS	0.338	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			14	90	14	90	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52928491	52928491	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:52928491C>G	ENST00000295213.4	+	4	789	c.415C>G	c.(415-417)Caa>Gaa	p.Q139E	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.Q139E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	139					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.Q139E(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAACCAGGTTCAAGACGAGTA	0.368																																						uc003gzl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(415-417)CAA>GAA		spermatogenesis associated 18 homolog							84.0	85.0	85.0					4																	52928491		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52928491C>G	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.415C>G	4.37:g.52928491C>G	ENSP00000295213:p.Gln139Glu					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q139E|SPATA18_uc003gzk.1_Missense_Mutation_p.Q139E	p.Q139E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		4	693	+			139			Potential.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.415C>G	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690459	0.48097	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;D	0.86694	-2.16;-2.16	5.25	4.4	0.53042	.	0.181464	0.50627	D	0.000110	D	0.86740	0.6005	M	0.73598	2.24	0.24268	N	0.995256	B;B;P	0.36837	0.356;0.356;0.571	B;B;B	0.39119	0.197;0.197;0.291	T	0.81527	-0.0892	10	0.72032	D	0.01	-14.417	11.0259	0.47744	0.1856:0.8144:0.0:0.0	.	139;139;139	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	E	139	ENSP00000295213:Q139E;ENSP00000415309:Q139E	ENSP00000295213:Q139E	Q	+	1	0	SPATA18	52623248	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.481000	0.35476	1.427000	0.47276	0.563000	0.77884	CAA		PASS	0.368	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		89	72	89	72	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56738082	56738082	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:56738082C>T	ENST00000381295.2	+	8	1380	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	EXOC1_ENST00000349598.6_Silent_p.A344A|EXOC1_ENST00000346134.7_Silent_p.A344A	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	344					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A344A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCTTTTTGCCCGGAGACTGG	0.398																																						uc003hbe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1030-1032)GCC>GCT		exocyst complex component 1 isoform 1							96.0	94.0	95.0					4																	56738082		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56738082C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1032C>T	4.37:g.56738082C>T						EXOC1_uc003hbf.1_Silent_p.A344A|EXOC1_uc003hbg.1_Silent_p.A344A	p.A344A	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			8	1190	+	Glioma(25;0.08)|all_neural(26;0.101)		344					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.1032C>T	CCDS3502.1																																																																																				PASS	0.398	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		28	70	28	70	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90856839	90856839	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:90856839G>A	ENST00000394980.1	+	7	2327	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.E670K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E412K			Q13201	MMRN1_HUMAN	multimerin 1	670					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.E670K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAACCAAAGGAAGCAATAGT	0.348																																						uc003hst.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2008-2010)GAA>AAA		multimerin 1							57.0	56.0	56.0					4																	90856839		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856839G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2008G>A	4.37:g.90856839G>A	ENSP00000378431:p.Glu670Lys					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E412K	p.E670K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2079	+		Hepatocellular(203;0.114)	670					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2008G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695360	0.30052	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.67698	0.06;0.06;-0.28	5.06	4.21	0.49690	.	0.345430	0.28093	N	0.016621	T	0.69024	0.3065	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.51016	0.656	T	0.70249	-0.4924	10	0.51188	T	0.08	.	10.4203	0.44346	0.0788:0.1485:0.7727:0.0	.	670	Q13201	MMRN1_HUMAN	K	670;670;412	ENSP00000378431:E670K;ENSP00000264790:E670K;ENSP00000426461:E412K	ENSP00000264790:E670K	E	+	1	0	MMRN1	91075862	0.996000	0.38824	0.921000	0.36526	0.028000	0.11728	2.652000	0.46682	2.718000	0.92993	0.655000	0.94253	GAA		PASS	0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		57	21	57	21	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96762275	96762275	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:96762275G>T	ENST00000295266.4	+	1	1037	c.974G>T	c.(973-975)aGc>aTc	p.S325I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	325					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.S325I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGTAAACAGCAAGCTCGCC	0.428																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(973-975)AGC>ATC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						85.0	83.0	84.0					4																	96762275		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762275G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.974G>T	4.37:g.96762275G>T	ENSP00000295266:p.Ser325Ile						p.S325I	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1037	+		Hepatocellular(203;0.114)	325					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.974G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	8.292	0.817935	0.16607	.	.	ENSG00000163114	ENST00000295266	D	0.95853	-3.83	4.81	-6.36	0.01969	Dehydrogenase, E1 component (1);	0.211271	0.49916	D	0.000134	D	0.95765	0.8622	M	0.72479	2.2	0.20074	N	0.999933	D	0.60160	0.987	D	0.64506	0.926	D	0.90918	0.4781	10	0.22109	T	0.4	-38.2254	15.9447	0.79784	0.8368:0.0:0.1632:0.0	.	325	P29803	ODPAT_HUMAN	I	325	ENSP00000295266:S325I	ENSP00000295266:S325I	S	+	2	0	PDHA2	96981298	0.995000	0.38212	0.000000	0.03702	0.384000	0.30261	0.649000	0.24843	-1.422000	0.02004	0.467000	0.42956	AGC		PASS	0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			34	138	34	138	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123333884	123333884	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:123333884C>G	ENST00000296513.2	+	10	1354	c.1169C>G	c.(1168-1170)aCc>aGc	p.T390S	ADAD1_ENST00000388725.2_Missense_Mutation_p.T372S|ADAD1_ENST00000388724.2_Missense_Mutation_p.T379S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	390	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.T390S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACAAATTGACCAGATGGGAA	0.413																																						uc003ieo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)ACC>AGC		adenosine deaminase domain containing 1							241.0	227.0	232.0					4																	123333884		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123333884C>G	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1169C>G	4.37:g.123333884C>G	ENSP00000296513:p.Thr390Ser					ADAD1_uc003iep.2_Missense_Mutation_p.T379S|ADAD1_uc003ieq.2_Missense_Mutation_p.T372S	p.T390S	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			10	1401	+			390			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1169C>G	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747797	0.30955	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93811	-3.29;-3.29;-3.29	5.26	3.53	0.40419	Adenosine deaminase/editase (3);	0.157234	0.47852	D	0.000209	D	0.89234	0.6657	L	0.41415	1.275	0.39121	D	0.961655	B;P	0.41848	0.063;0.763	B;B	0.40375	0.037;0.327	D	0.86130	0.1574	10	0.33141	T	0.24	-2.3481	11.7366	0.51769	0.0:0.8561:0.0:0.1439	.	379;390	Q96M93-2;Q96M93	.;ADAD1_HUMAN	S	390;379;372	ENSP00000296513:T390S;ENSP00000373376:T379S;ENSP00000373377:T372S	ENSP00000296513:T390S	T	+	2	0	ADAD1	123553334	1.000000	0.71417	0.675000	0.29917	0.941000	0.58515	3.178000	0.50879	0.606000	0.29965	0.563000	0.77884	ACC		PASS	0.413	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		74	256	74	256	---	---	---	---
GLRB	2743	broad.mit.edu	37	4	158065105	158065105	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr4:158065105C>A	ENST00000264428.4	+	8	1168	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	GLRB_ENST00000509282.1_Missense_Mutation_p.P300T|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.P300T	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	300					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.P300T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TGCCAGAGTGCCCCTGGGTAA	0.448																																						uc003ipj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(898-900)CCC>ACC		glycine receptor, beta isoform A precursor	Glycine(DB00145)						127.0	110.0	116.0					4																	158065105		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158065105C>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.898C>A	4.37:g.158065105C>A	ENSP00000264428:p.Pro300Thr						p.P300T	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	8	1100	+	all_hematologic(180;0.24)	Renal(120;0.0458)	300			Helical; (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.898C>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934458	0.73442	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	D;D;D	0.82526	-1.62;-1.62;-1.62	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	N	0.05280	-0.08	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87412	0.2376	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	300	P48167	GLRB_HUMAN	T	300	ENSP00000264428:P300T;ENSP00000441873:P300T;ENSP00000427186:P300T	ENSP00000264428:P300T	P	+	1	0	GLRB	158284555	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.945000	0.70226	2.814000	0.96858	0.655000	0.94253	CCC		PASS	0.448	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		32	28	32	28	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7897251	7897251	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:7897251G>T	ENST00000264668.2	+	14	1954	c.1924G>T	c.(1924-1926)Gtt>Ttt	p.V642F	MTRR_ENST00000440940.2_Missense_Mutation_p.V615F	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	642					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.V642F(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATGCTCCTGTTGGGGAGGA	0.448																																						uc003jed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1924-1926)GTT>TTT		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						79.0	81.0	80.0					5																	7897251		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7897251G>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1924G>T	5.37:g.7897251G>T	ENSP00000264668:p.Val642Phe					MTRR_uc003jee.3_Missense_Mutation_p.V615F|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.V642F	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			14	1954	+			642					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1924G>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	3.558	-0.090326	0.07053	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86769	-2.17;-2.17	5.31	2.28	0.28536	Oxidoreductase FAD/NAD(P)-binding (1);	1.161590	0.05975	N	0.643111	T	0.73860	0.3641	N	0.08118	0	0.19300	N	0.999973	B	0.16802	0.019	B	0.19391	0.025	T	0.62497	-0.6842	10	0.52906	T	0.07	-0.5427	3.0839	0.06271	0.1384:0.2699:0.4536:0.1381	.	642	Q9UBK8	MTRR_HUMAN	F	642;615	ENSP00000264668:V642F;ENSP00000402510:V615F	ENSP00000264668:V642F	V	+	1	0	MTRR	7950251	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	0.380000	0.20602	0.541000	0.28827	0.655000	0.94253	GTT		PASS	0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			84	190	84	190	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11236820	11236820	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:11236820T>G	ENST00000304623.8	-	10	1933	c.1744A>C	c.(1744-1746)Aac>Cac	p.N582H	CTNND2_ENST00000503622.1_Missense_Mutation_p.N245H|CTNND2_ENST00000359640.2_Missense_Mutation_p.N582H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.N491H|CTNND2_ENST00000458100.2_Missense_Mutation_p.N149H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	582					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N582H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTAATTTTGTTGTCTCCAAAA	0.458																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1744-1746)AAC>CAC		catenin (cadherin-associated protein), delta 2							115.0	120.0	118.0					5																	11236820		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236820T>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1744A>C	5.37:g.11236820T>G	ENSP00000307134:p.Asn582His					CTNND2_uc010itt.2_Missense_Mutation_p.N491H|CTNND2_uc011cmy.1_Missense_Mutation_p.N245H|CTNND2_uc011cmz.1_Missense_Mutation_p.N149H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.N149H	p.N582H	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1889	-			582			ARM 3.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1744A>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687789	0.68271	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	L	0.41492	1.28	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.995;0.996	T	0.79841	-0.1633	10	0.52906	T	0.07	-19.1168	16.1616	0.81721	0.0:0.0:0.0:1.0	.	245;149;582	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	582;582;491;149;245	ENSP00000307134:N582H;ENSP00000352661:N582H;ENSP00000426510:N491H;ENSP00000391155:N149H;ENSP00000426887:N245H	ENSP00000307134:N582H	N	-	1	0	CTNND2	11289820	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.139000	0.71728	2.221000	0.72209	0.454000	0.30748	AAC		PASS	0.458	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		191	213	191	213	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747337	19747337	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:19747337G>T	ENST00000507958.1	-	6	1227	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CDH18_ENST00000511273.1_Silent_p.S79S|CDH18_ENST00000274170.4_Silent_p.S79S|CDH18_ENST00000506372.1_Silent_p.S79S|CDH18_ENST00000502796.1_Silent_p.S79S|CDH18_ENST00000382275.1_Silent_p.S79S			Q13634	CAD18_HUMAN	cadherin 18, type 2	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S79S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCAGAATTGGAGTGCAGCT	0.383																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(235-237)TCC>TCA		cadherin 18, type 2 preproprotein							92.0	85.0	88.0					5																	19747337		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747337G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.237C>A	5.37:g.19747337G>T						CDH18_uc003jgd.2_Silent_p.S79S|CDH18_uc011cnm.1_Silent_p.S79S	p.S79S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	614	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		79			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.237C>A	CCDS3889.1																																																																																				PASS	0.383	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		20	238	20	238	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35861006	35861006	+	Missense_Mutation	SNP	G	G	T	rs200464578		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:35861006G>T	ENST00000303115.3	+	2	264	c.135G>T	c.(133-135)caG>caT	p.Q45H	IL7R_ENST00000343305.4_Missense_Mutation_p.Q45H|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.Q45H|IL7R_ENST00000511982.1_Missense_Mutation_p.Q45H	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	45					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.Q45H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCTATAGCCAGTTGGAAGTGA	0.448			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(133-135)CAG>CAT		interleukin 7 receptor precursor							206.0	187.0	194.0					5																	35861006		2203	4299	6502	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35861006G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.135G>T	5.37:g.35861006G>T	ENSP00000306157:p.Gln45His					IL7R_uc011coo.1_Missense_Mutation_p.Q45H|IL7R_uc011cop.1_RNA	p.Q45H	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		2	224	+	all_lung(31;0.00015)		45			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.135G>T	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473924	0.63737	.	.	ENSG00000168685	ENST00000508941;ENST00000515665;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.97	4.18	0.49190	.	0.059496	0.64402	D	0.000001	D	0.84538	0.5494	M	0.68952	2.095	0.42608	D	0.993304	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84121	0.0406	10	0.44086	T	0.13	-6.9361	9.6725	0.40021	0.1633:0.0:0.8367:0.0	.	45;45	D6RGV2;P16871	.;IL7RA_HUMAN	H	45	ENSP00000426426:Q45H;ENSP00000425538:Q45H;ENSP00000306157:Q45H;ENSP00000345819:Q45H;ENSP00000421207:Q45H;ENSP00000425309:Q45H	ENSP00000306157:Q45H	Q	+	3	2	IL7R	35896763	1.000000	0.71417	0.999000	0.59377	0.719000	0.41307	2.055000	0.41345	1.536000	0.49237	0.655000	0.94253	CAG		PASS	0.448	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			13	955	13	955	---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:36168477G>A	ENST00000274255.6	+	5	795	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507																																						uc003jkc.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(598-600)GGC>GAC		S-phase kinase-associated protein 2 isoform 1							212.0	213.0	212.0					5																	36168477		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168477G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.599G>A	5.37:g.36168477G>A	ENSP00000274255:p.Gly200Asp					SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.G200D	p.G200D	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	781	+	all_lung(31;5.63e-05)		200			LRR 3.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.599G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514246	0.04200	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.41758	0.99;0.99	5.43	-0.0819	0.13701	.	0.441048	0.27185	N	0.020531	T	0.18299	0.0439	N	0.16098	0.37	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.20505	-1.0273	10	0.12103	T	0.63	-2.8353	5.5651	0.17167	0.3435:0.1319:0.5247:0.0	.	200;200	Q13309-2;Q13309	.;SKP2_HUMAN	D	200;200;166	ENSP00000274254:G200D;ENSP00000274255:G200D	ENSP00000274254:G200D	G	+	2	0	SKP2	36204234	0.662000	0.27439	0.015000	0.15790	0.449000	0.32228	0.249000	0.18216	-0.065000	0.13021	-0.251000	0.11542	GGC		PASS	0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		7	958	7	958	---	---	---	---
C7	730	broad.mit.edu	37	5	40959652	40959652	+	Missense_Mutation	SNP	G	G	C	rs569813280		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:40959652G>C	ENST00000313164.9	+	12	1950	c.1591G>C	c.(1591-1593)Ggt>Cgt	p.G531R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	531	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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.G531R(1)					Ovarian(839;0.0112)				TCCCAGTGGGGGTGGGAGATC	0.557																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1591-1593)GGT>CGT		complement component 7 precursor							64.0	70.0	68.0					5																	40959652		1951	4153	6104	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959652G>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1591G>C	5.37:g.40959652G>C	ENSP00000322061:p.Gly531Arg					C7_uc011cpn.1_RNA	p.G531R	NM_000587	NP_000578	P10643	CO7_HUMAN			12	1705	+		Ovarian(839;0.0112)	531			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1591G>C	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722995	0.68959	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.22336	1.96	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71487	-0.4578	10	0.87932	D	0	-18.7268	19.0801	0.93178	0.0:0.0:1.0:0.0	.	531	P10643	CO7_HUMAN	R	531;371	ENSP00000322061:G531R	ENSP00000322061:G531R	G	+	1	0	C7	40995409	1.000000	0.71417	0.739000	0.30968	0.216000	0.24613	6.048000	0.71046	2.523000	0.85059	0.462000	0.41574	GGT		PASS	0.557	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			17	35	17	35	---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41805702	41805702	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:41805702T>C	ENST00000196371.5	-	9	1082	c.922A>G	c.(922-924)Agg>Ggg	p.R308G	OXCT1_ENST00000509987.1_Missense_Mutation_p.R122G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	308					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.R308G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AGAGCGGCCCTCTTGATGATT	0.443																																						uc003jmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(922-924)AGG>GGG		3-oxoacid CoA transferase 1 precursor	Succinic acid(DB00139)						137.0	133.0	134.0					5																	41805702		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805702T>C	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.922A>G	5.37:g.41805702T>C	ENSP00000196371:p.Arg308Gly						p.R308G	NM_000436	NP_000427	P55809	SCOT1_HUMAN			9	1253	-			308					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.922A>G	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349706	0.61183	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.88354	-2.37;-2.37	5.65	1.61	0.23674	3-oxoacid CoA-transferase, subunit B (1);	0.116409	0.56097	D	0.000025	D	0.96759	0.8942	H	0.99225	4.475	0.50632	D	0.999889	D	0.89917	1.0	D	0.85130	0.997	D	0.97061	0.9771	10	0.87932	D	0	-12.1307	14.86	0.70372	0.0:0.0:0.5054:0.4946	.	308	P55809	SCOT1_HUMAN	G	308;122	ENSP00000196371:R308G;ENSP00000425348:R122G	ENSP00000196371:R308G	R	-	1	2	OXCT1	41841459	0.454000	0.25728	0.895000	0.35142	0.853000	0.48598	0.660000	0.25009	0.060000	0.16281	-0.219000	0.12488	AGG		PASS	0.443	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		109	104	109	104	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262720	45262720	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:45262720C>A	ENST00000303230.4	-	8	2033	c.1976G>T	c.(1975-1977)cGc>cTc	p.R659L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						uc003jok.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1975-1977)CGC>CTC		hyperpolarization activated cyclic							171.0	165.0	167.0					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>T	5.37:g.45262720C>A	ENSP00000307342:p.Arg659Leu						p.R659L	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2001	-			659			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487748	0.04352	.	.	ENSG00000164588	ENST00000303230	T	0.76578	-1.03	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.70369	0.3216	L	0.44542	1.39	0.42764	D	0.993818	P	0.44090	0.826	B	0.40602	0.334	T	0.69165	-0.5217	10	0.30854	T	0.27	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	L	659	ENSP00000307342:R659L	ENSP00000307342:R659L	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		PASS	0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		101	153	101	153	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208933	140208933	+	Silent	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:140208933G>C	ENST00000529310.1	+	1	1371	c.1257G>C	c.(1255-1257)tcG>tcC	p.S419S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.S419S|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S419S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGTGTCGGCCTATGAGT	0.612																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1255-1257)TCG>TCC		protocadherin alpha 6 isoform 1 precursor							130.0	135.0	133.0					5																	140208933		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208933G>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1257G>C	5.37:g.140208933G>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S419S|PCDHA6_uc011dab.1_Silent_p.S419S	p.S419S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1284	+			419			Cadherin 4.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1257G>C	CCDS47281.1																																																																																				PASS	0.612	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		65	408	65	408	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730487	140730487	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:140730487C>T	ENST00000523390.1	+	1	660	c.660C>T	c.(658-660)agC>agT	p.S220S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S220S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCTAAGCGGCACCACCC	0.512																																						uc003ljo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)AGC>AGT		protocadherin gamma subfamily B, 1 isoform 1							54.0	57.0	56.0					5																	140730487		1880	4119	5999	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730487C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.660C>T	5.37:g.140730487C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S220S	p.S220S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	660	+			220			Extracellular (Potential).|Cadherin 2.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.660C>T	CCDS54923.1																																																																																				PASS	0.512	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		14	66	14	66	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140768219	140768219	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:140768219C>T	ENST00000519479.1	+	1	768	c.768C>T	c.(766-768)taC>taT	p.Y256Y	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y256Y(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACGTGTACCCGGGGACCA	0.507																																						uc003lkc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)TAC>TAT		protocadherin gamma subfamily B, 4 isoform 1							159.0	162.0	161.0					5																	140768219		2050	4192	6242	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768219C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.768C>T	5.37:g.140768219C>T						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_uc011dav.1_Silent_p.Y256Y	p.Y256Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	768	+			256			Cadherin 3.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.768C>T	CCDS54928.1																																																																																				PASS	0.507	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		285	104	285	104	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168201350	168201351	+	Missense_Mutation	DNP	CC	CC	AA	rs2288792	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:168201350_168201351CC>AA	ENST00000519560.1	-	13	1603_1604	c.1184_1185GG>TT	c.(1183-1185)cGG>cTT	p.R395L	SLIT3_ENST00000332966.8_Missense_Mutation_p.R395L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R395L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	395			R -> Q (in dbSNP:rs2288792).		apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R395L(2)|p.R395R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTGTTCACCCGCAGGCAGTT	0.54																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(1183-1185)CGG>CGT|c.(1183-1185)CGG>CTG		slit homolog 3 precursor																																				SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168201350C>A|g.chr5:168201351C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1184_1185delinsAA	5.37:g.168201350_168201351delinsAA	ENSP00000430333:p.Arg395Leu					SLIT3_uc010jjg.2_Silent_p.R395R|SLIT3_uc010jji.2_Silent_p.R395R|SLIT3_uc003mac.1_Silent_p.R192R|SLIT3_uc010jjg.2_Missense_Mutation_p.R395L|SLIT3_uc010jji.2_Missense_Mutation_p.R395L|SLIT3_uc003mac.1_Missense_Mutation_p.R192L	p.R395R|p.R395L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1605|1604	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	395			LRR 10.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent|Missense_Mutation	SNP	ENST00000519560.1	37	c.1185G>T|c.1184G>T	CCDS4369.1																																																																																				PASS	0.540	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		376|375	157	375	157	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176931128	176931128	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr5:176931128C>T	ENST00000357198.4	-	6	1351	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	DOK3_ENST00000501403.2_Silent_p.L393L|DOK3_ENST00000377112.4_Intron|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	449	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L449L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACTGGGCCTCCAGGGTACTGT	0.687																																						uc003mhk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1345-1347)CTG>CTA		docking protein 3 isoform 1							20.0	23.0	22.0					5																	176931128		2203	4299	6502	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931128C>T	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1347G>A	5.37:g.176931128C>T						DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Silent_p.L393L	p.L449L	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1352	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	449			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.1347G>A	CCDS4426.1																																																																																				PASS	0.687	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		31	9	31	9	---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3324141	3324141	+	Missense_Mutation	SNP	C	C	T	rs201050270	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:3324141C>T	ENST00000406686.3	-	4	1008	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SLC22A23_ENST00000436008.2_Missense_Mutation_p.A337T|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000490273.1_Missense_Mutation_p.A56T|SLC22A23_ENST00000380302.4_Missense_Mutation_p.A56T|SLC22A23_ENST00000380298.2_Missense_Mutation_p.A337T	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	337					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.A337T(1)|p.A56T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGGCACAGGGCGGCTAGCCCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16926	0.002		0.0	False		,,,				2504	0.0					uc003mvm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1009-1011)GCC>ACC		solute carrier family 22, member 23 isoform a							50.0	42.0	45.0					6																	3324141		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3324141C>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1009G>A	6.37:g.3324141C>T	ENSP00000385028:p.Ala337Thr					SLC22A23_uc003mvn.3_Missense_Mutation_p.A56T|SLC22A23_uc003mvo.3_Missense_Mutation_p.A56T|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.A337T|SLC22A23_uc010jno.2_Missense_Mutation_p.A337T	p.A337T	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN			4	1009	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	337					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1009G>A	CCDS47363.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	14.92	2.678729	0.47886	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177;ENST00000380298	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.329039	0.32488	N	0.006024	T	0.38983	0.1061	L	0.38838	1.175	0.38660	D	0.952066	P;P	0.52061	0.95;0.95	B;B	0.41571	0.36;0.36	T	0.49908	-0.8889	10	0.62326	D	0.03	-13.0832	17.2655	0.87085	0.0:1.0:0.0:0.0	.	337;337	C9J4Z0;A1A5C7	.;S22AN_HUMAN	T	337;337;56;56;165;163;337	ENSP00000410245:A337T;ENSP00000385028:A337T;ENSP00000369657:A56T;ENSP00000419463:A56T;ENSP00000418134:A165T;ENSP00000418985:A163T;ENSP00000369653:A337T	ENSP00000369653:A337T	A	-	1	0	SLC22A23	3269140	0.997000	0.39634	0.999000	0.59377	0.948000	0.59901	3.604000	0.54081	2.087000	0.62958	0.561000	0.74099	GCC		PASS	0.612	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		14	42	14	42	---	---	---	---
BMP6	654	broad.mit.edu	37	6	7862565	7862565	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:7862565G>T	ENST00000283147.6	+	4	1197	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	346					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.L346L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCAGGCCTGGTGGGCAGAG	0.547																																						uc003mxu.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(1036-1038)CTG>CTT		bone morphogenetic protein 6 preproprotein							85.0	93.0	90.0					6																	7862565		2203	4300	6503	SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862565G>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1038G>T	6.37:g.7862565G>T							p.L346L	NM_001718	NP_001709	P22004	BMP6_HUMAN			4	1216	+	Ovarian(93;0.0721)		346					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.1038G>T	CCDS4503.1																																																																																				PASS	0.547	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		76	209	76	209	---	---	---	---
HSPA1L	3305	broad.mit.edu	37	6	31778147	31778147	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:31778147T>A	ENST00000375654.4	-	2	1792	c.1603A>T	c.(1603-1605)Agg>Tgg	p.R535W	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R535W	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	535					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.R535W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATTTTCTCCCTCTGGACCTCA	0.448																																						uc003nxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1603-1605)AGG>TGG		heat shock 70kDa protein 1-like							155.0	159.0	157.0					6																	31778147		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778147T>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1603A>T	6.37:g.31778147T>A	ENSP00000364805:p.Arg535Trp					HSPA1L_uc010jte.2_Missense_Mutation_p.R535W	p.R535W	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1786	-			535					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1603A>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151518	0.38021	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01133	5.29;5.29	5.55	3.1	0.35709	.	0.000000	0.38164	N	0.001799	T	0.08268	0.0206	H	0.99697	4.71	0.47123	D	0.999325	D	0.71674	0.998	D	0.68039	0.955	T	0.03503	-1.1030	10	0.87932	D	0	-15.7609	11.1635	0.48528	0.0:0.0:0.2924:0.7075	.	535	P34931	HS71L_HUMAN	W	535;535;480	ENSP00000364805:R535W;ENSP00000387691:R535W	ENSP00000364804:R480W	R	-	1	2	HSPA1L	31886126	1.000000	0.71417	0.869000	0.34112	0.345000	0.29048	1.182000	0.32029	0.499000	0.27970	0.482000	0.46254	AGG		PASS	0.448	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			232	302	232	302	---	---	---	---
NEU1	4758	broad.mit.edu	37	6	31827543	31827543	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:31827543T>A	ENST00000375631.4	-	6	1330	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	401					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.T401S(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	ATGCTCTCTGTGTAGTGGTTC	0.572																																						uc003nxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CI002925	NEU1	I		c.(1201-1203)ACA>TCA		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						137.0	138.0	137.0					6																	31827543		1511	2708	4219	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31827543T>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.1201A>T	6.37:g.31827543T>A	ENSP00000364782:p.Thr401Ser					NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.T232S|NEU1_uc003nxs.3_3'UTR	p.T401S	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			6	1357	-			401						Missense_Mutation	SNP	ENST00000375631.4	37	c.1201A>T	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	T	8.114	0.779411	0.16120	.	.	ENSG00000204386	ENST00000375631	D	0.83673	-1.75	5.4	0.241	0.15494	Neuraminidase (2);	0.860074	0.10701	N	0.644021	T	0.49201	0.1543	L	0.38531	1.155	0.09310	N	1	B	0.28820	0.224	B	0.23716	0.048	T	0.25882	-1.0119	10	0.22706	T	0.39	-19.0861	3.0639	0.06209	0.1272:0.0781:0.2603:0.5344	.	401	Q99519	NEUR1_HUMAN	S	401	ENSP00000364782:T401S	ENSP00000364782:T401S	T	-	1	0	NEU1	31935522	0.017000	0.18338	0.410000	0.26471	0.820000	0.46376	0.355000	0.20163	0.490000	0.27771	-0.376000	0.06991	ACA		PASS	0.572	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			87	161	87	161	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33263293	33263293	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:33263293C>A	ENST00000497454.1	-	7	1507	c.1012G>T	c.(1012-1014)Gtg>Ttg	p.V338L	RGL2_ENST00000444031.2_Missense_Mutation_p.V256L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	338	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V338L(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACCTCTGCCACGCGGATCCAC	0.617																																						uc003odv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1012-1014)GTG>TTG		ral guanine nucleotide dissociation							47.0	48.0	48.0					6																	33263293		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263293C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1012G>T	6.37:g.33263293C>A	ENSP00000420211:p.Val338Leu					RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.V256L|RGL2_uc011drb.1_Missense_Mutation_p.V256L	p.V338L	NM_004761	NP_004752	O15211	RGL2_HUMAN			7	1145	-			338			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1012G>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297173	0.60086	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.38401	1.14;1.14	4.91	4.91	0.64330	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.068019	0.64402	D	0.000016	T	0.45657	0.1353	M	0.64630	1.985	0.58432	D	0.999992	D;D	0.57571	0.97;0.98	D;P	0.62955	0.909;0.902	T	0.45264	-0.9273	10	0.72032	D	0.01	.	13.4774	0.61316	0.0:1.0:0.0:0.0	.	256;338	B4DG72;O15211	.;RGL2_HUMAN	L	338;202;256	ENSP00000420211:V338L;ENSP00000403070:V256L	ENSP00000400083:V202L	V	-	1	0	RGL2	33371271	1.000000	0.71417	0.958000	0.39756	0.700000	0.40528	4.869000	0.63028	2.542000	0.85734	0.643000	0.83706	GTG		PASS	0.617	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			14	89	14	89	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38754631	38754631	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:38754631C>G	ENST00000359357.3	+	16	2089	c.1835C>G	c.(1834-1836)aCt>aGt	p.T612S	DNAH8_ENST00000449981.2_Missense_Mutation_p.T829S|DNAH8_ENST00000441566.1_Missense_Mutation_p.T612S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	612					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T612S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTCGGGAAACTAAGTGTATG	0.368																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1834-1836)ACT>AGT		dynein, axonemal, heavy polypeptide 8							95.0	95.0	95.0					6																	38754631		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38754631C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1835C>G	6.37:g.38754631C>G	ENSP00000352312:p.Thr612Ser						p.T612S	NM_001371	NP_001362					16	2435	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1835C>G		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478269	0.84747	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57107	0.42;0.42;0.42	5.37	5.37	0.77165	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	L	0.44542	1.39	0.46901	D	0.999244	P	0.39003	0.654	P	0.49252	0.604	T	0.40098	-0.9581	10	0.33940	T	0.23	.	17.2812	0.87129	0.0:1.0:0.0:0.0	.	612	Q96JB1	DYH8_HUMAN	S	817;817;612;612	ENSP00000333363:T817S;ENSP00000352312:T612S;ENSP00000402294:T612S	ENSP00000333363:T817S	T	+	2	0	DNAH8	38862609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.851000	0.69481	2.515000	0.84797	0.655000	0.94253	ACT		PASS	0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		34	68	34	68	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38879313	38879313	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:38879313T>A	ENST00000359357.3	+	64	9413	c.9159T>A	c.(9157-9159)taT>taA	p.Y3053*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Y3270*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Y3017*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3053	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3053*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAACATTTATGCTGAAAAGG	0.353																																						uc003ooe.1																			2	Substitution - Nonsense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9157-9159)TAT>TAA		dynein, axonemal, heavy polypeptide 8							67.0	68.0	68.0					6																	38879313		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38879313T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9159T>A	6.37:g.38879313T>A	ENSP00000352312:p.Tyr3053*					uc003oof.1_Intron	p.Y3053*	NM_001371	NP_001362					64	9759	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.9159T>A		.	.	.	.	.	.	.	.	.	.	T	51	17.949675	0.99896	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.78	0.919	0.19392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	9.7957	0.40733	0.0:0.436:0.0:0.564	.	.	.	.	X	3258;3258;3053;3017	.	ENSP00000333363:Y3258X	Y	+	3	2	DNAH8	38987291	0.289000	0.24334	0.952000	0.39060	0.762000	0.43233	0.694000	0.25512	-0.054000	0.13266	0.460000	0.39030	TAT		PASS	0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		28	67	28	67	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42789780	42789780	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:42789780C>T	ENST00000314073.5	+	3	196	c.20C>T	c.(19-21)tCg>tTg	p.S7L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S7L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	7								p.S7L(2)									GATGATGACTCGTGTCTCCTT	0.358																																						uc003osn.1																			2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(1)	1						c.(19-21)TCG>TTG		hypothetical protein LOC23506							274.0	239.0	251.0					6																	42789780		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42789780C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.20C>T	6.37:g.42789780C>T	ENSP00000313933:p.Ser7Leu					KIAA0240_uc003osm.1_Missense_Mutation_p.S7L|KIAA0240_uc011duw.1_Missense_Mutation_p.S7L|KIAA0240_uc003oso.1_Missense_Mutation_p.S7L|KIAA0240_uc003osp.1_Missense_Mutation_p.S7L	p.S7L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		3	171	+	Colorectal(47;0.196)		7					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.20C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668549	0.67814	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.49139	0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000033	T	0.56499	0.1989	L	0.51422	1.61	0.52099	D	0.999942	D;D;D	0.76494	0.998;0.999;0.999	P;D;P	0.65987	0.859;0.94;0.9	T	0.52313	-0.8592	10	0.44086	T	0.13	-6.8563	19.6676	0.95898	0.0:1.0:0.0:0.0	.	7;7;7	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	L	7	ENSP00000313933:S7L;ENSP00000377723:S7L	ENSP00000313933:S7L	S	+	2	0	KIAA0240	42897758	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.059000	0.64306	2.656000	0.90262	0.563000	0.77884	TCG		PASS	0.358	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		13	253	13	253	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70669889	70669889	+	Splice_Site	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:70669889G>A	ENST00000322773.4	+	10	1040	c.938G>A	c.(937-939)gGt>gAt	p.G313D		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	313	Collagen-like 1.|Triple-helical region 1 (COL1).				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.G313D(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						TTCTTTTAGGGTGAAAATGGT	0.328																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(937-939)GGT>GAT		alpha 1 type XIX collagen precursor							126.0	118.0	121.0					6																	70669889		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70669889G>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.937-1G>A	6.37:g.70669889G>A						COL19A1_uc010kam.1_Missense_Mutation_p.G209D	p.G313D	NM_001858	NP_001849	Q14993	COJA1_HUMAN			10	1055	+			313			Triple-helical region 1 (COL1).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.938G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053191	0.36181	.	.	ENSG00000082293	ENST00000322773	T	0.77489	-1.1	5.06	5.06	0.68205	.	0.156112	0.45606	D	0.000342	D	0.89382	0.6699	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91374	0.5122	10	0.87932	D	0	.	13.8068	0.63238	0.0:0.0:1.0:0.0	.	313	Q14993	COJA1_HUMAN	D	313	ENSP00000316030:G313D	ENSP00000316030:G313D	G	+	2	0	COL19A1	70726610	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.661000	0.46758	2.630000	0.89119	0.650000	0.86243	GGT		PASS	0.328	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	22	56	22	56	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87971382	87971382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:87971382G>T	ENST00000369577.3	+	8	8078	c.8035G>T	c.(8035-8037)Gag>Tag	p.E2679*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E2674*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2679						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.E2679*(1)|p.E2534*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGATTGCACTGAGCTTGTCTT	0.343																																						uc003plm.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(8035-8037)GAG>TAG		zinc finger protein 292							53.0	49.0	50.0					6																	87971382		1827	4079	5906	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87971382G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.8035G>T	6.37:g.87971382G>T	ENSP00000358590:p.Glu2679*						p.E2679*	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	8076	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2679					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.8035G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	47	13.206933	0.99727	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	6.05	6.05	0.98169	.	0.095800	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	2679;2674	.	ENSP00000342847:E2674X	E	+	1	0	ZNF292	88028101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.298000	0.72763	2.866000	0.98385	0.650000	0.86243	GAG		PASS	0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	24	11	24	---	---	---	---
VNN3	55350	broad.mit.edu	37	6	133052588	133052588	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:133052588T>A	ENST00000392393.3	-	3	495	c.423A>T	c.(421-423)caA>caT	p.Q141H	VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000207771.3_Intron|VNN3_ENST00000425515.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000580813.1_5'Flank|VNN3_ENST00000392394.2_Missense_Mutation_p.Q141H|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000367927.5_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000414302.2_Intron			Q9NY84	VNN3_HUMAN	vanin 3	0	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		acaatttccattggccatatt	0.418																																						uc003qdp.2																			0					0						c.(421-423)CAA>CAT		SubName: Full=PAGEL-beta;							123.0	110.0	115.0					6																	133052588		2203	4300	6503	SO:0001583	missense	55350							g.chr6:133052588T>A	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000392393.3:c.423A>T	6.37:g.133052588T>A	ENSP00000441182:p.Gln141His					VNN3_uc010kfs.2_Intron|VNN3_uc011ecl.1_Intron|VNN3_uc011ecm.1_Intron|VNN3_uc011ecn.1_5'UTR|VNN3_uc010kfu.2_Intron|VNN3_uc010kfv.2_Intron|VNN3_uc010kfw.2_Intron|VNN3_uc010kfx.2_Intron|VNN3_uc010kfy.2_Intron|VNN3_uc010kfz.2_Intron	p.Q141H	NM_078625	NP_523239				OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	3	495	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000392393.3	37	c.423A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.02|10.02	1.235242|1.235242	0.22626|0.22626	.|.	.|.	ENSG00000093134|ENSG00000093134	ENST00000544102|ENST00000392393;ENST00000392394	.|D;D	.|0.81821	.|-1.54;-1.54	3.76|3.76	-2.26|-2.26	0.06867|0.06867	.|.	.|.	.|.	.|.	.|.	T|T	0.54854|0.54854	0.1884|0.1884	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.19331	.|0.035	.|B	.|0.27715	.|0.082	T|T	0.57452|0.57452	-0.7809|-0.7809	4|8	.|0.87932	.|D	.|0	.|.	8.3492|8.3492	0.32292|0.32292	0.0:0.3399:0.0:0.6601|0.0:0.3399:0.0:0.6601	.|.	.|141	.|Q9NY84-4	.|.	L|H	54|141	.|ENSP00000441182:Q141H;ENSP00000445925:Q141H	.|ENSP00000441182:Q141H	M|Q	-|-	1|3	0|2	VNN3|VNN3	133094281|133094281	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.466000|-0.466000	0.06672|0.06672	-0.424000|-0.424000	0.07382|0.07382	-0.250000|-0.250000	0.11733|0.11733	ATG|CAA		PASS	0.418	VNN3-002	KNOWN	NAGNAG_splice_site|NMD_exception|basic	protein_coding	protein_coding	OTTHUMT00000042266.4	NR_028290		20	102	20	102	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138196127	138196127	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:138196127C>G	ENST00000237289.4	+	3	507	c.441C>G	c.(439-441)ctC>ctG	p.L147L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	147	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.L147L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TGGAGTCTCTCAAATCTCAGG	0.483			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Substitution - coding silent(1)	p.0?(22)|p.L147fs*7(1)	haematopoietic_and_lymphoid_tissue(25)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(439-441)CTC>CTG		tumor necrosis factor, alpha-induced protein 3							112.0	114.0	113.0					6																	138196127		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138196127C>G	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.441C>G	6.37:g.138196127C>G						TNFAIP3_uc003qhs.2_Silent_p.L147L	p.L147L	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	3	507	+	Breast(32;0.135)|Colorectal(23;0.24)		147			TRAF-binding.|OTU.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.441C>G	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069405	0.20147	.	.	ENSG00000118503	ENST00000536070	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32719	-0.9896	5	0.05525	T	0.97	-8.8933	3.9211	0.09244	0.1114:0.1152:0.3942:0.3792	.	.	.	.	E	147	.	ENSP00000444718:Q147E	Q	+	1	0	TNFAIP3	138237820	0.001000	0.12720	0.119000	0.21687	0.990000	0.78478	-2.128000	0.01314	-2.455000	0.00540	-0.165000	0.13383	CAA		PASS	0.483	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			39	238	39	238	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144768801	144768801	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:144768801G>A	ENST00000367545.3	+	15	1786	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	596	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D596N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATTGGCCAGGATGTGGGACA	0.378																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1786-1788)GAT>AAT		utrophin							135.0	132.0	133.0					6																	144768801		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768801G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1786G>A	6.37:g.144768801G>A	ENSP00000356515:p.Asp596Asn					UTRN_uc010khq.1_Missense_Mutation_p.D596N	p.D596N	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	15	1878	+		Ovarian(120;0.218)	596			Interaction with SYNM.|Spectrin 4.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1786G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369440	0.82463	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.34667	1.35	5.87	4.1	0.47936	.	0.000000	0.56097	D	0.000030	T	0.44808	0.1311	M	0.78637	2.42	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	T	0.47849	-0.9085	10	0.45353	T	0.12	.	13.1011	0.59219	0.1283:0.0:0.8717:0.0	.	596	P46939	UTRO_HUMAN	N	596	ENSP00000356515:D596N	ENSP00000356499:D596N	D	+	1	0	UTRN	144810494	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.751000	0.98889	0.947000	0.37659	0.655000	0.94253	GAT		PASS	0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			36	181	36	181	---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147636666	147636666	+	Nonsense_Mutation	SNP	T	T	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:147636666T>G	ENST00000321680.6	+	15	1418	c.1418T>G	c.(1417-1419)tTa>tGa	p.L473*	STXBP5_ENST00000179882.6_Nonsense_Mutation_p.L144*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.L473*|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.L473*	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	473					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.L473*(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTACAAGTATTATATAAGCTA	0.284																																						uc003qlz.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1417-1419)TTA>TGA		syntaxin binding protein 5 (tomosyn) isoform b							37.0	38.0	38.0					6																	147636666		2203	4298	6501	SO:0001587	stop_gained	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147636666T>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1418T>G	6.37:g.147636666T>G	ENSP00000321826:p.Leu473*					STXBP5_uc010khz.1_Nonsense_Mutation_p.L473*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.L144*	p.L473*	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	15	1579	+		Ovarian(120;0.0164)	473			WD 8.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	c.1418T>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	37	6.178671	0.97352	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3116	0.82873	0.0:0.0:0.0:1.0	.	.	.	.	X	473;473;473;144	.	ENSP00000179882:L144X	L	+	2	0	STXBP5	147678359	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.690000	0.84178	2.254000	0.74563	0.523000	0.50628	TTA		PASS	0.284	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			20	27	20	27	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152536168	152536169	+	Missense_Mutation	DNP	CC	CC	AA	rs575637225		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr6:152536168_152536169CC>AA	ENST00000367255.5	-	122	22819_22820	c.22218_22219GG>TT	c.(22216-22221)atGGct>atTTct	p.7406_7407MA>IS	SYNE1_ENST00000341594.5_Missense_Mutation_p.7018_7019MA>IS|SYNE1_ENST00000423061.1_Missense_Mutation_p.7335_7336MA>IS|SYNE1_ENST00000265368.4_Missense_Mutation_p.7406_7407MA>IS|SYNE1_ENST00000448038.1_Missense_Mutation_p.7335_7336MA>IS|SYNE1_ENST00000356820.4_Missense_Mutation_p.1930_1931MA>IS	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7406					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.M7406_A7407>IS(2)|p.A7407S(2)|p.M7406I(2)|p.M7335I(1)|p.A7336S(1)|p.M7335_A7336>IS(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATCTGGAGCCATGCTGCTGA	0.386										HNSCC(10;0.0054)																												uc010kiw.2																			9	Substitution - Missense(6)|Complex - compound substitution(3)		lung(9)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(22219-22221)GCT>TCT|c.(22216-22218)ATG>ATT		spectrin repeat containing, nuclear envelope 1																																				SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536168C>A|g.chr6:152536169C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22218_22219delinsAA	6.37:g.152536168_152536169delinsAA	ENSP00000356224:p.M7406_A7407delinsIS	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.A1931S|SYNE1_uc003qos.3_Missense_Mutation_p.A1931S|SYNE1_uc003qot.3_Missense_Mutation_p.A7336S|SYNE1_uc003qou.3_Missense_Mutation_p.A7407S|SYNE1_uc003qor.3_Missense_Mutation_p.A307S|SYNE1_uc010kiv.2_Missense_Mutation_p.M1930I|SYNE1_uc003qos.3_Missense_Mutation_p.M1930I|SYNE1_uc003qot.3_Missense_Mutation_p.M7335I|SYNE1_uc003qou.3_Missense_Mutation_p.M7406I|SYNE1_uc003qor.3_Missense_Mutation_p.M306I	p.A7407S|p.M7406I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22821|22820	-		Ovarian(120;0.0955)	7407|7406			Spectrin 24.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22219G>T|c.22218G>T	CCDS5236.2																																																																																				PASS	0.386	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		80|81	135	80	135	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2255539	2255540	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:2255539_2255540CC>AA	ENST00000406869.1	-	9	1461_1462	c.904_905GG>TT	c.(904-906)GGc>TTc	p.G302F	MAD1L1_ENST00000265854.7_Missense_Mutation_p.G302F|MAD1L1_ENST00000486340.1_5'UTR|MAD1L1_ENST00000399654.2_Missense_Mutation_p.G302F|MAD1L1_ENST00000402746.1_Missense_Mutation_p.G210F			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	302					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.G302V(1)|p.G302F(1)|p.G302C(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CAGCTCCAAGCCAACCAGCGTC	0.634																																						uc003slh.1																			3	Substitution - Missense(3)		lung(3)	lung(1)|central_nervous_system(1)	2						c.(904-906)GGC>GTC|c.(904-906)GGC>TGC		MAD1-like 1 protein																																				SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255539C>A|g.chr7:2255540C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.904_905delinsAA	7.37:g.2255539_2255540delinsAA	ENSP00000385334:p.Gly302Phe					MAD1L1_uc003sle.1_Missense_Mutation_p.G31V|MAD1L1_uc003slf.1_Missense_Mutation_p.G302V|MAD1L1_uc003slg.1_Missense_Mutation_p.G302V|MAD1L1_uc010ksh.1_Missense_Mutation_p.G302V|MAD1L1_uc003sli.1_Missense_Mutation_p.G210V|MAD1L1_uc010ksi.1_Missense_Mutation_p.G255V|MAD1L1_uc010ksj.2_Missense_Mutation_p.G302V|MAD1L1_uc003sle.1_Missense_Mutation_p.G31C|MAD1L1_uc003slf.1_Missense_Mutation_p.G302C|MAD1L1_uc003slg.1_Missense_Mutation_p.G302C|MAD1L1_uc010ksh.1_Missense_Mutation_p.G302C|MAD1L1_uc003sli.1_Missense_Mutation_p.G210C|MAD1L1_uc010ksi.1_Missense_Mutation_p.G255C|MAD1L1_uc010ksj.2_Missense_Mutation_p.G302C	p.G302V|p.G302C	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	9	1171|1170	-		Ovarian(82;0.0272)	302			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.905G>T|c.904G>T	CCDS43539.1																																																																																				PASS	0.634	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		123|125	214|213	123	213	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11078436	11078436	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:11078436G>A	ENST00000403050.3	+	11	2482	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	PHF14_ENST00000445996.2_Missense_Mutation_p.S392N	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	677					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S677N(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAACTTCGAAGTGAAGGACAA	0.353																																						uc003sry.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(2029-2031)AGT>AAT		PHD finger protein 14 isoform 2							85.0	81.0	83.0					7																	11078436		1851	4079	5930	SO:0001583	missense	9678						zinc ion binding	g.chr7:11078436G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2030G>A	7.37:g.11078436G>A	ENSP00000385795:p.Ser677Asn					PHF14_uc011jxi.1_Missense_Mutation_p.S392N|PHF14_uc003srz.2_Missense_Mutation_p.S677N|PHF14_uc011jxj.1_Missense_Mutation_p.S392N	p.S677N	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	11	2465	+			677					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.2030G>A	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601325	0.13939	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.70516	-0.1;-0.49	4.86	2.04	0.26737	.	0.179734	0.64402	D	0.000014	T	0.39545	0.1082	N	0.08118	0	0.29949	N	0.820402	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.14980	-1.0453	10	0.10377	T	0.69	.	2.9348	0.05811	0.3517:0.2278:0.4205:0.0	.	392;392;677;677	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	N	677;392	ENSP00000385795:S677N;ENSP00000403907:S392N	ENSP00000385795:S677N	S	+	2	0	PHF14	11044961	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.842000	0.48230	0.751000	0.32900	0.655000	0.94253	AGT		PASS	0.353	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		6	28	6	28	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21723437	21723437	+	Missense_Mutation	SNP	A	A	T	rs552607031		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:21723437A>T	ENST00000409508.3	+	32	5527	c.5496A>T	c.(5494-5496)caA>caT	p.Q1832H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q1839H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1839	Stem. {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.Q1839H(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						GGCTGTCTCAACTTCGTCACC	0.438									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5515-5517)CAA>CAT		dynein, axonemal, heavy chain 11							314.0	295.0	301.0					7																	21723437		1938	4128	6066	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.chr7:21723437A>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		ENST00000409508.3:c.5496A>T	7.37:g.21723437A>T	ENSP00000475939:p.Gln1832His						p.Q1839H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5548	+			1839			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5517A>T		.	.	.	.	.	.	.	.	.	.	A	19.77	3.889281	0.72524	.	.	ENSG00000105877	ENST00000328843	T	0.36699	1.24	5.93	-9.28	0.00656	.	0.306755	0.36409	N	0.002616	T	0.52158	0.1717	.	.	.	0.47547	D	0.999451	D	0.89917	1.0	D	0.85130	0.997	T	0.73579	-0.3938	9	0.87932	D	0	.	15.4728	0.75453	0.2962:0.0908:0.613:0.0	.	1839	Q96DT5	DYH11_HUMAN	H	1839	ENSP00000330671:Q1839H	ENSP00000330671:Q1839H	Q	+	3	2	DNAH11	21689962	0.994000	0.37717	0.754000	0.31244	0.682000	0.39822	0.440000	0.21592	-1.540000	0.01730	-1.533000	0.00918	CAA		PASS	0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		204	234	204	234	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31008714	31008714	+	Missense_Mutation	SNP	C	C	A	rs577536745		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:31008714C>A	ENST00000326139.2	+	3	243	c.197C>A	c.(196-198)cCa>cAa	p.P66Q	GHRHR_ENST00000409904.3_5'Flank|GHRHR_ENST00000409316.1_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	66					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.P66Q(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGTGCTGGCCAACGGCAGGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17820	0.0		0.0	False		,,,				2504	0.001					uc003tbx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(196-198)CCA>CAA		growth hormone releasing hormone receptor	Sermorelin(DB00010)						22.0	21.0	21.0					7																	31008714		2201	4296	6497	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31008714C>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.197C>A	7.37:g.31008714C>A	ENSP00000320180:p.Pro66Gln					GHRHR_uc003tbw.1_Missense_Mutation_p.P66Q|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank	p.P66Q	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			3	245	+			66			Extracellular (Potential).		Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.197C>A	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218526	0.58560	.	.	ENSG00000106128	ENST00000326139	T	0.60171	0.21	4.64	4.64	0.57946	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.74489	0.3723	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75822	-0.3182	9	0.48119	T	0.1	.	12.9524	0.58409	0.0:1.0:0.0:0.0	.	66	Q02643	GHRHR_HUMAN	Q	66	ENSP00000320180:P66Q	ENSP00000320180:P66Q	P	+	2	0	GHRHR	30975239	0.943000	0.32029	0.946000	0.38457	0.410000	0.31052	1.986000	0.40677	2.431000	0.82371	0.650000	0.86243	CCA		PASS	0.637	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			4	6	4	6	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	35050089	35050089	+	Missense_Mutation	SNP	G	G	T	rs544842923		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:35050089G>T	ENST00000310974.4	-	6	680	c.536C>A	c.(535-537)aCa>aAa	p.T179K		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.T179K(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CCTTAAATATGTGCCATATAT	0.234																																						uc003tem.3																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)ACA>AAA		dpy-19-like 1							23.0	22.0	23.0					7																	35050089		1969	4171	6140	SO:0001583	missense	23333					integral to membrane		g.chr7:35050089G>T	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.536C>A	7.37:g.35050089G>T	ENSP00000308695:p.Thr179Lys						p.T179K	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			6	681	-			179					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.536C>A	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959247	0.74016	.	.	ENSG00000173852	ENST00000310974	T	0.57752	0.38	5.29	5.29	0.74685	.	0.240963	0.41294	D	0.000905	T	0.68247	0.2980	M	0.72894	2.215	0.46981	D	0.999277	D	0.56287	0.975	P	0.59761	0.863	T	0.65356	-0.6188	10	0.29301	T	0.29	-19.9041	17.9123	0.88938	0.0:0.0:1.0:0.0	.	179	Q2PZI1	D19L1_HUMAN	K	179	ENSP00000308695:T179K	ENSP00000308695:T179K	T	-	2	0	DPY19L1	35016614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.798000	0.75155	2.476000	0.83614	0.585000	0.79938	ACA		PASS	0.234	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			10	26	10	26	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005725	42005725	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:42005725C>A	ENST00000395925.3	-	15	3030	c.2946G>T	c.(2944-2946)ggG>ggT	p.G982G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	982					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G982G(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGTGGGCTCCCCCGTCGCTGC	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2944-2946)GGG>GGT		GLI-Kruppel family member GLI3							5.0	6.0	5.0					7																	42005725		1968	3956	5924	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005725C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2946G>T	7.37:g.42005725C>A						GLI3_uc011kbg.1_Silent_p.G923G	p.G982G	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3037	-			982					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2946G>T	CCDS5465.1																																																																																				PASS	0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	8	8	8	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48431646	48431646	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:48431646A>G	ENST00000435803.1	+	38	11807	c.11783A>G	c.(11782-11784)gAc>gGc	p.D3928G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3928	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.D3928G(1)|p.D3873G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCCTGTTGGACAACCTCACC	0.507																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11782-11784)GAC>GGC		ATP binding cassette, sub-family A (ABC1),							131.0	134.0	133.0					7																	48431646		2029	4181	6210	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431646A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11783A>G	7.37:g.48431646A>G	ENSP00000411096:p.Asp3928Gly					ABCA13_uc010kys.1_Missense_Mutation_p.D1002G|ABCA13_uc003tos.1_Missense_Mutation_p.D754G|ABCA13_uc010kyt.1_RNA	p.D3928G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			38	11808	+			3928			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11783A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214186	0.39102	.	.	ENSG00000179869	ENST00000435803	D	0.93953	-3.32	5.32	-1.76	0.08006	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.165341	0.27792	U	0.017834	D	0.91161	0.7216	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.67145	0.996;0.991	D;P	0.68943	0.961;0.902	D	0.83972	0.0327	10	0.54805	T	0.06	.	6.0727	0.19897	0.4397:0.4094:0.1508:0.0	.	1630;3928	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	G	3928	ENSP00000411096:D3928G	ENSP00000411096:D3928G	D	+	2	0	ABCA13	48402192	1.000000	0.71417	0.000000	0.03702	0.277000	0.26821	4.070000	0.57548	-0.580000	0.05944	0.383000	0.25322	GAC		PASS	0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		16	106	16	106	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71252808	71252808	+	Silent	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:71252808A>G	ENST00000329008.5	-	6	910	c.612T>C	c.(610-612)agT>agC	p.S204S	CALN1_ENST00000395276.2_Silent_p.S204S|CALN1_ENST00000431984.1_Silent_p.S204S|CALN1_ENST00000395275.2_Silent_p.S246S|CALN1_ENST00000412588.1_Silent_p.S246S|CALN1_ENST00000405452.2_Silent_p.S204S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.S204S(1)|p.S246S(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCAGCATGACACTGATGATGA	0.582																																						uc003twa.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(610-612)AGT>AGC		calneuron 1 isoform 2							123.0	95.0	105.0					7																	71252808		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252808A>G	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.612T>C	7.37:g.71252808A>G						CALN1_uc003twb.3_Silent_p.S246S|CALN1_uc003twc.3_Silent_p.S204S	p.S204S	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1139	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	204			Helical; Anchor for type IV membrane protein; (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.612T>C	CCDS5541.1																																																																																				PASS	0.582	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		9	97	9	97	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76916837	76916837	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:76916837C>A	ENST00000285871.4	+	17	2485	c.2358C>A	c.(2356-2358)gaC>gaA	p.D786E	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.D500E	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	786								p.D786E(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGCTCACAGACAGGCTCTGCA	0.522																																						uc003uga.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2356-2358)GAC>GAA		coiled-coil domain containing 146							73.0	71.0	72.0					7																	76916837		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76916837C>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2358C>A	7.37:g.76916837C>A	ENSP00000285871:p.Asp786Glu					CCDC146_uc010ldp.2_Missense_Mutation_p.D500E|CCDC146_uc003ugc.2_Missense_Mutation_p.D123E	p.D786E	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			17	2485	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	786			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.2358C>A	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744118	0.15710	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.39056	1.1;1.1	5.47	3.65	0.41850	.	0.239831	0.46442	D	0.000287	T	0.22551	0.0544	N	0.21324	0.655	0.29427	N	0.860144	B;B	0.32507	0.373;0.061	B;B	0.34489	0.184;0.041	T	0.24261	-1.0165	10	0.02654	T	1	-17.5996	7.2852	0.26335	0.0:0.6091:0.2425:0.1483	.	500;786	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	E	786;500	ENSP00000285871:D786E;ENSP00000413885:D500E	ENSP00000285871:D786E	D	+	3	2	AC007000.1	76754773	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	0.879000	0.28146	1.313000	0.45069	0.467000	0.42956	GAC		PASS	0.522	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		45	59	45	59	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99779815	99779815	+	Splice_Site	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:99779815G>A	ENST00000426455.1	+	3	626	c.219G>A	c.(217-219)ccG>ccA	p.P73P	STAG3_ENST00000394018.2_Splice_Site_p.P73P|STAG3_ENST00000317296.5_Splice_Site_p.P73P	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	73					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.P73P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAACAACACCGGTGAGTCAGC	0.502																																						uc003utx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(217-219)CCG>CCA		stromal antigen 3							73.0	66.0	68.0					7																	99779815		2203	4300	6503	SO:0001630	splice_region_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99779815G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.219+1G>A	7.37:g.99779815G>A						STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P73P	p.P73P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			3	374	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		73					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.219G>A	CCDS34703.1																																																																																				PASS	0.502	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	Silent	4	67	4	67	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100452291	100452291	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:100452291G>T	ENST00000354161.3	+	3	356	c.231G>T	c.(229-231)ctG>ctT	p.L77L	SLC12A9_ENST00000415287.1_Intron|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000428758.1_Silent_p.L77L|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Silent_p.L77L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	77					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.L77L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATGCTGCTGGTTGCCTACT	0.612																																						uc003uwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CTG>CTT		solute carrier family 12 (potassium/chloride							116.0	92.0	100.0					7																	100452291		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452291G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.231G>T	7.37:g.100452291G>T						SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	p.L77L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			3	373	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		77			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.231G>T	CCDS5707.1																																																																																				PASS	0.612	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		115	170	115	170	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682800	100682800	+	Silent	SNP	C	C	G	rs370237876		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:100682800C>G	ENST00000306151.4	+	3	8167	c.8103C>G	c.(8101-8103)acC>acG	p.T2701T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2701	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2701T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGTCAGCACCACGCTGTTGG	0.488																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8101-8103)ACC>ACG		mucin 17 precursor		C		1,4405	2.1+/-5.4	0,1,2202	236.0	246.0	242.0		8103	-0.0	0.0	7		242	0,8600		0,0,4300	no	coding-synonymous	MUC17	NM_001040105.1		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		2701/4494	100682800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682800C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8103C>G	7.37:g.100682800C>G						MUC17_uc010lho.1_RNA	p.T2701T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8156	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2701			Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.8103C>G	CCDS34711.1																																																																																				PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		76	521	76	521	---	---	---	---
MOGAT3	346606	broad.mit.edu	37	7	100841537	100841537	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:100841537G>A	ENST00000223114.4	-	5	769	c.603C>T	c.(601-603)gtC>gtT	p.V201V	MOGAT3_ENST00000379423.3_Silent_p.V201V|MOGAT3_ENST00000440203.2_Silent_p.V201V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	201					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.V201V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTCCCCGGGGACTGAATACA	0.672																																						uc003uyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(601-603)GTC>GTT		monoacylglycerol O-acyltransferase 3							50.0	53.0	52.0					7																	100841537		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841537G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.603C>T	7.37:g.100841537G>A						MOGAT3_uc010lhr.2_Silent_p.V201V	p.V201V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			5	770	-	Lung NSC(181;0.168)|all_lung(186;0.215)		201					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.603C>T	CCDS5714.1																																																																																				PASS	0.672	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		25	165	25	165	---	---	---	---
COL26A1	136227	broad.mit.edu	37	7	101006372	101006372	+	RNA	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:101006372C>T	ENST00000397927.3	+	0	272				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A20V(1)									TCGGCGCTGGCCACCGGCTTC	0.751																																						uc010lhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)GCC>GTC		EMI domain containing 2							4.0	6.0	6.0					7																	101006372		1907	4018	5925			136227					collagen		g.chr7:101006372C>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101006372C>T						EMID2_uc003uyo.1_Missense_Mutation_p.A20V	p.A20V	NM_133457	NP_597714	Q96A83	EMID2_HUMAN			1	251	+	Lung NSC(181;0.215)		20					Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37	c.59C>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.936691	0.73442	.	.	ENSG00000160963	ENST00000313669	D	0.91631	-2.88	3.85	2.88	0.33553	.	0.266050	0.19576	U	0.110995	D	0.87120	0.6098	N	0.08118	0	0.21147	N	0.999775	D;D	0.61697	0.99;0.98	P;P	0.54238	0.746;0.611	T	0.79720	-0.1685	10	0.59425	D	0.04	.	10.0823	0.42397	0.0:0.7722:0.2278:0.0	.	20;20	Q96A83;C9JPW4	EMID2_HUMAN;.	V	20	ENSP00000318234:A20V	ENSP00000318234:A20V	A	+	2	0	EMID2	100793092	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.657000	0.37366	1.674000	0.50907	0.305000	0.20034	GCC		PASS	0.751	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		3	7	3	7	---	---	---	---
ORC5	5001	broad.mit.edu	37	7	103838219	103838219	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:103838219T>C	ENST00000297431.4	-	4	537	c.395A>G	c.(394-396)gAt>gGt	p.D132G	ORC5_ENST00000447452.2_Missense_Mutation_p.D132G|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	132					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.D132G(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGCTTCCATATCTCTTAGATA	0.308																																						uc003vcb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(394-396)GAT>GGT		origin recognition complex subunit 5 isoform 1							57.0	58.0	57.0					7																	103838219		2201	4295	6496	SO:0001583	missense	5001				cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103838219T>C		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.395A>G	7.37:g.103838219T>C	ENSP00000297431:p.Asp132Gly					ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Missense_Mutation_p.D132G|ORC5L_uc003vcd.2_Missense_Mutation_p.D132G	p.D132G	NM_002553	NP_002544	O43913	ORC5_HUMAN			4	506	-			132					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.395A>G	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949689	0.73787	.	.	ENSG00000164815	ENST00000297431;ENST00000447452	T;T	0.67865	-0.29;-0.29	5.56	5.56	0.83823	.	0.182174	0.64402	D	0.000018	T	0.78304	0.4262	M	0.78456	2.415	0.80722	D	1	P;D;P	0.54772	0.722;0.968;0.722	B;P;B	0.55345	0.383;0.774;0.383	T	0.81527	-0.0892	10	0.66056	D	0.02	.	15.7169	0.77674	0.0:0.0:0.0:1.0	.	132;132;132	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	G	132	ENSP00000297431:D132G;ENSP00000395747:D132G	ENSP00000297431:D132G	D	-	2	0	ORC5	103625455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.325000	0.72901	2.124000	0.65301	0.374000	0.22700	GAT		PASS	0.308	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		19	16	19	16	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107418637	107418637	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:107418637G>C	ENST00000340010.5	-	13	1681	c.1497C>G	c.(1495-1497)atC>atG	p.I499M	SLC26A3_ENST00000422236.2_Missense_Mutation_p.I464M	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	499					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.I499M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCCTGAACACGATGGTTAGCA	0.473																																						uc003ver.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1495-1497)ATC>ATG		solute carrier family 26, member 3							96.0	75.0	82.0					7																	107418637		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107418637G>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1497C>G	7.37:g.107418637G>C	ENSP00000345873:p.Ile499Met					SLC26A3_uc003ves.2_Missense_Mutation_p.I464M	p.I499M	NM_000111	NP_000102	P40879	S26A3_HUMAN			13	1708	-			499						Missense_Mutation	SNP	ENST00000340010.5	37	c.1497C>G	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081392	0.55753	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93906	-3.29;-3.31	5.81	-5.37	0.02681	.	0.104471	0.64402	D	0.000005	D	0.92734	0.7690	L	0.45698	1.435	0.21967	N	0.999447	D;D	0.76494	0.999;0.991	D;P	0.74023	0.982;0.904	D	0.87443	0.2396	10	0.72032	D	0.01	.	8.8298	0.35076	0.6531:0.0801:0.1861:0.0807	.	464;499	G5E9U3;P40879	.;S26A3_HUMAN	M	464;499	ENSP00000415817:I464M;ENSP00000345873:I499M	ENSP00000345873:I499M	I	-	3	3	SLC26A3	107205873	0.011000	0.17503	0.354000	0.25760	0.975000	0.68041	-1.014000	0.03641	-1.061000	0.03185	-0.768000	0.03414	ATC		PASS	0.473	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		18	22	18	22	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111405235	111405235	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:111405235C>A	ENST00000437633.1	-	38	4188	c.3932G>T	c.(3931-3933)cGt>cTt	p.R1311L	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1320L|DOCK4_ENST00000494651.2_Missense_Mutation_p.R194L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1311	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R1311L(1)|p.R1308L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGTTCAAGACGTTGCTGGTC	0.328																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3931-3933)CGT>CTT		dedicator of cytokinesis 4							41.0	39.0	40.0					7																	111405235		1824	4066	5890	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111405235C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3932G>T	7.37:g.111405235C>A	ENSP00000404179:p.Arg1311Leu					DOCK4_uc011kml.1_Missense_Mutation_p.R192L|DOCK4_uc011kmm.1_Missense_Mutation_p.R218L|DOCK4_uc003vfw.2_Missense_Mutation_p.R761L|DOCK4_uc003vfy.2_Missense_Mutation_p.R1356L	p.R1311L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			38	4201	-		Acute lymphoblastic leukemia(1;0.0441)	1311			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3932G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.484997|5.484997	0.96323|0.96323	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129|ENST00000423057;ENST00000445943	T;T;T;T|.	0.60040|.	3.27;2.64;3.29;0.22|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84188|0.84188	0.5417|0.5417	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.85133|0.85133	0.0976|0.0976	10|5	0.87932|.	D|.	0|.	.|.	19.6745|19.6745	0.95926|0.95926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;194;1356;1311;1320|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	L|F	1299;1320;194;1311;1308;185|772;1344	ENSP00000410746:R1320L;ENSP00000440944:R194L;ENSP00000404179:R1311L;ENSP00000406298:R185L|.	ENSP00000345432:R1308L|.	R|V	-|-	2|1	0|0	DOCK4|DOCK4	111192471|111192471	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.993000|0.993000	0.82548|0.82548	7.585000|7.585000	0.82584|0.82584	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CGT|GTC		PASS	0.328	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	4	4	4	---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117876971	117876971	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:117876971G>A	ENST00000265224.4	+	5	858	c.703G>A	c.(703-705)Gtt>Att	p.V235I	ANKRD7_ENST00000417525.1_Missense_Mutation_p.V182I|ANKRD7_ENST00000433239.1_Missense_Mutation_p.V182I|ANKRD7_ENST00000357099.4_Missense_Mutation_p.V255I|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	235					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.V255I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TATTTCCATGGTTTTACTGCG	0.393																																						uc003vji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)GTT>ATT		ankyrin repeat domain 7							291.0	268.0	275.0					7																	117876971		1896	4118	6014	SO:0001583	missense	56311				male gonad development			g.chr7:117876971G>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.703G>A	7.37:g.117876971G>A	ENSP00000265224:p.Val235Ile						p.V235I	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			5	876	+			235					B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.703G>A	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748304	0.15710	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.39229	1.13;1.22;1.13;1.09	4.7	4.7	0.59300	.	1.723900	0.05117	N	0.489887	T	0.42426	0.1202	L	0.36672	1.1	0.23930	N	0.996435	P	0.46987	0.888	P	0.44561	0.453	T	0.35822	-0.9773	10	0.20519	T	0.43	1.4438	14.714	0.69254	0.0:0.0:1.0:0.0	.	235	Q92527	ANKR7_HUMAN	I	255;235;182;182	ENSP00000349612:V255I;ENSP00000265224:V235I;ENSP00000395595:V182I;ENSP00000388473:V182I	ENSP00000265224:V235I	V	+	1	0	ANKRD7	117664207	1.000000	0.71417	0.987000	0.45799	0.007000	0.05969	3.513000	0.53414	2.325000	0.78763	0.455000	0.32223	GTT		PASS	0.393	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		230	302	230	302	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140287512	140287512	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:140287512T>G	ENST00000275884.6	-	3	1481	c.1064A>C	c.(1063-1065)cAg>cCg	p.Q355P	DENND2A_ENST00000496613.1_Missense_Mutation_p.Q355P|DENND2A_ENST00000537639.1_Missense_Mutation_p.Q355P|DENND2A_ENST00000492720.1_Missense_Mutation_p.Q355P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	355					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q355P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCTTAGTCTGCGCGTACCA	0.493																																						uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1063-1065)CAG>CCG		DENN/MADD domain containing 2A							87.0	92.0	90.0					7																	140287512		2035	4178	6213	SO:0001583	missense	27147							g.chr7:140287512T>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1064A>C	7.37:g.140287512T>G	ENSP00000275884:p.Gln355Pro					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q355P|DENND2A_uc003vvw.2_Missense_Mutation_p.Q355P|DENND2A_uc003vvx.2_Missense_Mutation_p.Q355P	p.Q355P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			2	1209	-	Melanoma(164;0.00956)		355					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1064A>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223493	0.39300	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11385	3.48;3.48;3.48;2.78	5.23	2.83	0.33086	.	0.078553	0.53938	D	0.000048	T	0.15305	0.0369	L	0.61387	1.9	0.46376	D	0.999012	P;P	0.44195	0.828;0.668	P;B	0.46975	0.533;0.189	T	0.01352	-1.1377	10	0.49607	T	0.09	-15.7491	7.5729	0.27918	0.0:0.0737:0.1429:0.7834	.	355;355	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	P	355	ENSP00000275884:Q355P;ENSP00000442245:Q355P;ENSP00000419654:Q355P;ENSP00000419464:Q355P	ENSP00000275884:Q355P	Q	-	2	0	DENND2A	139933981	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.745000	0.62125	0.822000	0.34565	0.454000	0.30748	CAG		PASS	0.493	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		46	117	46	117	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142626552	142626552	+	Missense_Mutation	SNP	C	C	T	rs192702809		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:142626552C>T	ENST00000265310.1	-	4	806	c.458G>A	c.(457-459)cGc>cAc	p.R153H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R153H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	153					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R153L(1)|p.R153H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGACTACGGCGGAAGGCAGT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20872	0.0		0.0	False		,,,				2504	0.0					uc003wby.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(457-459)CGC>CAC		transient receptor potential cation channel,							82.0	71.0	75.0					7																	142626552		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142626552C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.458G>A	7.37:g.142626552C>T	ENSP00000265310:p.Arg153His					TRPV5_uc003wbz.2_Missense_Mutation_p.R153H	p.R153H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			4	722	-	Melanoma(164;0.059)		153			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.458G>A	CCDS5875.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.349	0.064163	0.08388	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.53206	0.63;0.63;0.63	4.85	-2.45	0.06481	Ankyrin repeat-containing domain (4);	0.533379	0.19241	N	0.119177	T	0.29817	0.0745	L	0.39898	1.24	0.09310	N	1	B;B	0.18166	0.026;0.006	B;B	0.16722	0.014;0.016	T	0.12734	-1.0536	10	0.27082	T	0.32	-3.2157	5.3646	0.16107	0.0:0.302:0.2569:0.4411	.	153;153	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	153;147;153	ENSP00000265310:R153H;ENSP00000406361:R147H;ENSP00000406572:R153H	ENSP00000265310:R153H	R	-	2	0	TRPV5	142336674	0.005000	0.15991	0.002000	0.10522	0.097000	0.18754	0.057000	0.14279	-0.797000	0.04450	0.563000	0.77884	CGC		PASS	0.622	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		56	66	56	66	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142724138	142724138	+	Missense_Mutation	SNP	C	C	T	rs147361429		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:142724138C>T	ENST00000350513.2	-	1	144	c.82G>A	c.(82-84)Gct>Act	p.A28T		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A28T(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAGAATATAGCAAAAAGAATG	0.418																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)GCT>ACT		olfactory receptor, family 9, subfamily A,							85.0	86.0	85.0					7																	142724138		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724138C>T		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.82G>A	7.37:g.142724138C>T	ENSP00000316518:p.Ala28Thr						p.A28T	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	82	-	Melanoma(164;0.059)		28			Helical; Name=1; (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.82G>A	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760874	0.15914	.	.	ENSG00000179468	ENST00000350513	T	0.00438	7.42	4.12	1.3	0.21679	.	0.541351	0.13673	N	0.370730	T	0.00300	0.0009	L	0.39245	1.2	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.37619	-0.9698	10	0.41790	T	0.15	-7.3563	6.3131	0.21176	0.0:0.5732:0.0:0.4268	.	28	Q8NGT5	OR9A2_HUMAN	T	28	ENSP00000316518:A28T	ENSP00000316518:A28T	A	-	1	0	OR9A2	142434260	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.451000	0.02387	0.151000	0.19162	0.555000	0.69702	GCT		PASS	0.418	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			30	129	30	129	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149475964	149475964	+	RNA	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:149475964T>C	ENST00000378016.2	+	0	930							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTCCATCTCTGTGGACCACG	0.637																																						uc010lpk.2																			0					0						c.(928-930)TCT>TCC		SCO-spondin precursor							96.0	111.0	106.0					7																	149475964		2085	4205	6290			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149475964T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149475964T>C						SSPO_uc010lpl.1_5'UTR	p.S310S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		7	930	+	Melanoma(164;0.165)|Ovarian(565;0.177)		310			VWFD 1.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.930T>C																																																																																					PASS	0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				72	175	72	175	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149489487	149489487	+	RNA	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:149489487G>C	ENST00000378016.2	+	0	5640							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGGCCTGGGCAACGCATCA	0.706																																						uc010lpk.2																			0					0						c.(5638-5640)GGG>GGC		SCO-spondin precursor							14.0	21.0	18.0					7																	149489487		2133	4221	6354			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489487G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489487G>C							p.G1880G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		38	5640	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1880			EGF-like 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.5640G>C																																																																																					PASS	0.706	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	17	8	17	---	---	---	---
ABCB8	11194	broad.mit.edu	37	7	150741298	150741298	+	Missense_Mutation	SNP	G	G	A	rs546942647		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:150741298G>A	ENST00000297504.6	+	16	2123	c.2057G>A	c.(2056-2058)cGt>cAt	p.R686H	ABCB8_ENST00000542328.1_Missense_Mutation_p.R581H|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000358849.4_Missense_Mutation_p.R669H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	686	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R669H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GCCGATGGCCGTGTCTGGGAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16994	0.0		0.001	False		,,,				2504	0.0					uc003wil.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)	3						c.(2056-2058)CGT>CAT		ATP-binding cassette, sub-family B, member 8							117.0	88.0	98.0					7																	150741298		2202	4300	6502	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150741298G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2057G>A	7.37:g.150741298G>A	ENSP00000297504:p.Arg686His					ABCB8_uc010lpx.2_Intron|ABCB8_uc011kvd.1_Missense_Mutation_p.R581H|ABCB8_uc003wim.3_Missense_Mutation_p.R464H|ABCB8_uc003wik.3_Missense_Mutation_p.R669H	p.R686H	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2150	+			686			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.2057G>A		.	.	.	.	.	.	.	.	.	.	G	7.110	0.575832	0.13623	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328	D;D;D	0.83914	-1.78;-1.78;-1.78	4.61	0.196	0.15159	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.440855	0.24891	N	0.034780	T	0.78259	0.4255	M	0.70275	2.135	0.26465	N	0.975382	B;B;B	0.23128	0.08;0.033;0.055	B;B;B	0.22152	0.036;0.017;0.038	T	0.67937	-0.5541	10	0.48119	T	0.1	2.5238	8.025	0.30431	0.6535:0.0:0.3465:0.0	.	581;686;669	G3XAP3;Q9NUT2;Q9NUT2-2	.;ABCB8_HUMAN;.	H	669;652;686;581	ENSP00000351717:R669H;ENSP00000297504:R686H;ENSP00000438776:R581H	ENSP00000297504:R686H	R	+	2	0	ABCB8	150372231	0.000000	0.05858	0.079000	0.20413	0.138000	0.21146	0.148000	0.16224	-0.073000	0.12842	-0.251000	0.11542	CGT		PASS	0.602	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		76	203	76	203	---	---	---	---
ASIC3	9311	broad.mit.edu	37	7	150748977	150748977	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:150748977C>T	ENST00000349064.5	+	7	1493	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	ASIC3_ENST00000357922.4_Missense_Mutation_p.S432L|ASIC3_ENST00000297512.8_Missense_Mutation_p.S432L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	432					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.S432L(2)									TATGAGATGTCAGAGCTGCTT	0.587																																						uc003win.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1294-1296)TCA>TTA		amiloride-sensitive cation channel 3 isoform a							103.0	94.0	97.0					7																	150748977		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150748977C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1295C>T	7.37:g.150748977C>T	ENSP00000344838:p.Ser432Leu					ACCN3_uc003wio.2_Missense_Mutation_p.S432L|ACCN3_uc003wip.2_Missense_Mutation_p.S432L|ACCN3_uc003wiq.2_RNA	p.S432L	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1663	+			432			Extracellular (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1295C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	37|37	6.592590|6.592590	0.97688|0.97688	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000485929|ENST00000357922;ENST00000349064;ENST00000297512;ENST00000490540	.|T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.252582	.|0.20456	.|U	.|0.091996	.|T	.|0.57154	.|0.2034	L|L	0.38531|0.38531	1.155|1.155	0.39668|0.39668	D|D	0.970714|0.970714	.|B;B;D	.|0.53619	.|0.089;0.371;0.961	.|B;B;P	.|0.45660	.|0.208;0.217;0.489	.|T	.|0.60919	.|-0.7167	.|10	0.23302|0.40728	T|T	0.38|0.16	-3.5426|-3.5426	15.1448|15.1448	0.72641|0.72641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|432;432;432	.|Q9UHC3-2;Q9UHC3-3;Q9UHC3	.|.;.;ACCN3_HUMAN	X|L	58|432;432;432;63	.|ENSP00000350600:S432L;ENSP00000344838:S432L;ENSP00000297512:S432L;ENSP00000418361:S63L	ENSP00000367136:Q383X|ENSP00000297512:S432L	Q|S	+|+	1|2	0|0	ACCN3|ACCN3	150379910|150379910	1.000000|1.000000	0.71417|0.71417	0.253000|0.253000	0.24343|0.24343	0.106000|0.106000	0.19336|0.19336	4.425000|4.425000	0.59875|0.59875	2.147000|2.147000	0.66899|0.66899	0.586000|0.586000	0.80456|0.80456	CAG|TCA		PASS	0.587	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		32	224	32	224	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150864346	150864346	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:150864346G>C	ENST00000297537.4	-	1	289	c.290C>G	c.(289-291)tCg>tGg	p.S97W	GBX1_ENST00000475831.1_Intron	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	97	Ala-rich.|Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S97W(1)		large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCACCATCGAGGGCACAGC	0.771																																						uc011kvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TCG>TGG		gastrulation brain homeo box 1							2.0	3.0	3.0					7																	150864346		1575	3461	5036	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150864346G>C	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.290C>G	7.37:g.150864346G>C	ENSP00000297537:p.Ser97Trp						p.S97W	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	522	-			97			Ala-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000297537.4	37	c.290C>G	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	g	19.48	3.835404	0.71373	.	.	ENSG00000164900	ENST00000297537	D	0.91945	-2.94	3.67	3.67	0.42095	.	0.000000	0.56097	U	0.000024	D	0.91372	0.7278	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.91444	0.5176	10	0.59425	D	0.04	.	10.7531	0.46221	0.0:0.0:1.0:0.0	.	97	Q14549	GBX1_HUMAN	W	97	ENSP00000297537:S97W	ENSP00000297537:S97W	S	-	2	0	GBX1	150495279	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.433000	0.52834	1.886000	0.54624	0.479000	0.44913	TCG		PASS	0.771	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			3	9	3	9	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151932996	151932996	+	Missense_Mutation	SNP	C	C	A	rs372408170		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr7:151932996C>A	ENST00000262189.6	-	16	2893	c.2675G>T	c.(2674-2676)gGa>gTa	p.G892V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G892V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	892					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G892V(2)									TCTCCGCTTTCCTGGAAATCC	0.493																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2674-2676)GGA>GTA		myeloid/lymphoid or mixed-lineage leukemia 3							32.0	33.0	33.0					7																	151932996		2203	4296	6499	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151932996C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2675G>T	7.37:g.151932996C>A	ENSP00000262189:p.Gly892Val					MLL3_uc003wkz.2_5'UTR	p.G892V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	16	2894	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	892					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2675G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960676|3.960676	0.74016|0.74016	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.89810|.	-2.55;-2.57|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.46145|.	D|.	0.000320|.	T|T	0.72301|0.72301	0.3443|0.3443	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.70894|0.70894	-0.4748|-0.4748	10|5	0.87932|.	D|.	0|.	.|.	17.0444|17.0444	0.86498|0.86498	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	892|.	Q8NEZ4|.	MLL3_HUMAN|.	V|S	892|47	ENSP00000262189:G892V;ENSP00000347325:G892V|.	ENSP00000262189:G892V|.	G|R	-|-	2|3	0|2	MLL3|MLL3	151563929|151563929	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.988000|0.988000	0.76386|0.76386	7.268000|7.268000	0.78473|0.78473	2.530000|2.530000	0.85305|0.85305	0.650000|0.650000	0.86243|0.86243	GGA|AGG		PASS	0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	136	7	136	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748528	8748528	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:8748528G>T	ENST00000276282.6	-	1	2627	c.2041C>A	c.(2041-2043)Cta>Ata	p.L681I		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	681								p.L681I(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACCAGCTTAGCCACAGTCGC	0.622																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2041-2043)CTA>ATA		malignant fibrous histiocytoma amplified							47.0	42.0	44.0					8																	8748528		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748528G>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2041C>A	8.37:g.8748528G>T	ENSP00000276282:p.Leu681Ile						p.L681I	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2604	-		Hepatocellular(245;0.217)	681					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2041C>A	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977306	0.53720	.	.	ENSG00000147324	ENST00000276282	T	0.39787	1.06	4.76	4.76	0.60689	.	0.091136	0.45867	D	0.000337	T	0.42585	0.1209	L	0.46614	1.455	0.58432	D	0.999999	P	0.50819	0.939	P	0.46362	0.514	T	0.18745	-1.0327	10	0.23302	T	0.38	.	16.9756	0.86312	0.0:0.0:1.0:0.0	.	681	Q9Y4C4	MFHA1_HUMAN	I	681	ENSP00000276282:L681I	ENSP00000276282:L681I	L	-	1	2	MFHAS1	8785938	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	7.793000	0.85851	2.480000	0.83734	0.655000	0.94253	CTA		PASS	0.622	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		20	13	20	13	---	---	---	---
MICU3	286097	broad.mit.edu	37	8	16884802	16884802	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:16884802G>C	ENST00000318063.5	+	1	56	c.14G>C	c.(13-15)cGa>cCa	p.R5P		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	5						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R5P(1)									GCTGCGCTGCGAAGGCTCTTG	0.731																																						uc003wxd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(13-15)CGA>CCA		EF-hand domain family, member A2							12.0	14.0	14.0					8																	16884802		1867	3754	5621	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16884802G>C	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.14G>C	8.37:g.16884802G>C	ENSP00000321455:p.Arg5Pro						p.R5P	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	1	56	+			5					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.14G>C	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297080	0.40694	.	.	ENSG00000155970	ENST00000318063	T	0.55930	0.49	3.31	3.31	0.37934	.	0.235751	0.25422	N	0.030787	T	0.54854	0.1884	N	0.24115	0.695	0.30327	N	0.787048	D	0.67145	0.996	D	0.70487	0.969	T	0.54675	-0.8258	10	0.72032	D	0.01	1.0265	10.3971	0.44207	0.0:0.0:1.0:0.0	.	5	Q86XE3	EFHA2_HUMAN	P	5	ENSP00000321455:R5P	ENSP00000321455:R5P	R	+	2	0	EFHA2	16929173	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.441000	0.44864	2.149000	0.67028	0.462000	0.41574	CGA		PASS	0.731	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		7	27	7	27	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17512165	17512165	+	Nonsense_Mutation	SNP	A	A	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:17512165A>C	ENST00000262102.6	-	10	3343	c.3119T>G	c.(3118-3120)tTa>tGa	p.L1040*	MTUS1_ENST00000519263.1_Nonsense_Mutation_p.L986*|MTUS1_ENST00000381869.3_Nonsense_Mutation_p.L986*|MTUS1_ENST00000544260.1_Nonsense_Mutation_p.L185*|MTUS1_ENST00000381861.3_Nonsense_Mutation_p.L287*|MTUS1_ENST00000400046.1_Nonsense_Mutation_p.L112*|MTUS1_ENST00000297488.6_Nonsense_Mutation_p.L206*|MTUS1_ENST00000518713.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1040					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L287*(1)|p.L1040*(1)|p.L206*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGCAGCATTTAAGTTGTCAAA	0.413																																						uc003wxv.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|skin(1)	2						c.(3118-3120)TTA>TGA		mitochondrial tumor suppressor 1 isoform 1							80.0	75.0	76.0					8																	17512165		1866	4110	5976	SO:0001587	stop_gained	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17512165A>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3119T>G	8.37:g.17512165A>C	ENSP00000262102:p.Leu1040*					MTUS1_uc003wxt.2_Nonsense_Mutation_p.L287*|MTUS1_uc011kyg.1_Nonsense_Mutation_p.L185*|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Nonsense_Mutation_p.L986*|MTUS1_uc003wxs.2_Nonsense_Mutation_p.L206*	p.L1040*	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	10	3593	-			1040			Potential.		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	c.3119T>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	45	11.629195	0.99584	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	.	.	.	4.81	4.81	0.61882	.	0.067836	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9483	14.8599	0.70372	1.0:0.0:0.0:0.0	.	.	.	.	X	986;185;112;206;287;1040;986	.	ENSP00000262102:L1040X	L	-	2	0	MTUS1	17556445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.106000	0.77039	2.164000	0.68074	0.533000	0.62120	TTA		PASS	0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		62	24	62	24	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19177078	19177078	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:19177078C>T	ENST00000265807.3	+	2	431	c.20C>T	c.(19-21)tCg>tTg	p.S7L	SH2D4A_ENST00000518040.1_Intron|SH2D4A_ENST00000519207.1_Missense_Mutation_p.S7L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	7					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CAGATACTGTCGGAGATGTAC	0.468																																						uc003wzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TCG>TTG		SH2 domain containing 4A							80.0	72.0	75.0					8																	19177078		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19177078C>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.20C>T	8.37:g.19177078C>T	ENSP00000265807:p.Ser7Leu					SH2D4A_uc011kym.1_Intron|SH2D4A_uc003wzc.2_Missense_Mutation_p.S7L	p.S7L	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	2	356	+			7					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.20C>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	C	8.666	0.901617	0.17760	.	.	ENSG00000104611	ENST00000265807;ENST00000519207	T;T	0.12039	2.72;2.72	5.88	5.0	0.66597	.	0.387780	0.24967	N	0.034174	T	0.14700	0.0355	M	0.72118	2.19	0.09310	N	1	P	0.45428	0.858	B	0.30943	0.122	T	0.20075	-1.0286	10	0.44086	T	0.13	.	14.231	0.65892	0.1503:0.8497:0.0:0.0	.	7	Q9H788	SH24A_HUMAN	L	7	ENSP00000265807:S7L;ENSP00000428684:S7L	ENSP00000265807:S7L	S	+	2	0	SH2D4A	19221358	0.036000	0.19791	0.002000	0.10522	0.289000	0.27227	3.038000	0.49783	1.474000	0.48178	0.655000	0.94253	TCG		PASS	0.468	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		16	86	16	86	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25203000	25203000	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:25203000A>T	ENST00000276440.7	+	26	2671	c.2627A>T	c.(2626-2628)gAa>gTa	p.E876V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	876					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E876V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAGTGCAGAGAAGTGCTGCTG	0.552																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2626-2628)GAA>GTA		dedicator of cytokinesis 5							100.0	89.0	93.0					8																	25203000		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25203000A>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2627A>T	8.37:g.25203000A>T	ENSP00000276440:p.Glu876Val					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E590V|DOCK5_uc003xei.2_Missense_Mutation_p.E446V|DOCK5_uc003xej.2_RNA	p.E876V	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	26	2764	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	876					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2627A>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.12|15.12	2.739708|2.739708	0.49045|0.49045	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|T	0.31510|0.65178	1.49|-0.14	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.392484|.	0.29846|.	N|.	0.011058|.	T|T	0.68016|0.68016	0.2955|0.2955	L|L	0.40543|0.40543	1.245|1.245	0.47511|0.47511	D|D	0.999445|0.999445	B;B;B|.	0.17667|.	0.009;0.023;0.009|.	B;B;B|.	0.23275|.	0.017;0.045;0.017|.	T|T	0.70171|0.70171	-0.4945|-0.4945	10|7	0.27082|0.87932	T|D	0.32|0	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	866;651;876|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	V|S	876|647	ENSP00000276440:E876V|ENSP00000414125:R647S	ENSP00000276440:E876V|ENSP00000414125:R647S	E|R	+|+	2|3	0|2	DOCK5|DOCK5	25258917|25258917	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.811000|0.811000	0.45836|0.45836	8.962000|8.962000	0.93254|0.93254	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAA|AGA		PASS	0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		25	106	25	106	---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		4	Substitution - Missense(4)		lung(4)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(1333-1335)CGG>TGG		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						44.0	51.0	48.0					8																	38275843		2129	4236	6365	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38275843G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1333C>T	8.37:g.38275843G>A	ENSP00000400162:p.Arg445Trp					FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R443W|FGFR1_uc011lbp.1_Missense_Mutation_p.R356W|FGFR1_uc011lbq.1_Missense_Mutation_p.R354W|FGFR1_uc010lwk.2_Missense_Mutation_p.R435W	p.R445W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		11	2275	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	445			Cytoplasmic (Potential).		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1333C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888857	0.72524	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.95698	0.8746	10	0.87932	D	0	.	14.3551	0.66733	0.0:0.0:0.8519:0.1481	.	354;354;445;435;443	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	443;476;445;445;445;443;443;356;435;354;356;443	ENSP00000380280:R443W;ENSP00000393312:R476W;ENSP00000400162:R445W;ENSP00000340636:R445W;ENSP00000432972:R443W;ENSP00000380302:R443W;ENSP00000348537:R356W;ENSP00000337247:R435W;ENSP00000327229:R354W;ENSP00000380292:R356W;ENSP00000380297:R443W	ENSP00000311337:R445W	R	-	1	2	FGFR1	38395000	0.957000	0.32711	0.989000	0.46669	0.475000	0.33008	1.615000	0.36922	2.678000	0.91216	0.655000	0.94253	CGG		PASS	0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	105	4	105	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39564308	39564308	+	Splice_Site	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:39564308G>T	ENST00000265707.5	+	18	1947		c.e18-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000523755.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCTGTTTCAGATATGTAATA	0.333																																						uc003xni.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.e18-1		a disintegrin and metalloprotease domain 18							94.0	95.0	94.0					8																	39564308		2203	4300	6503	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39564308G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1903-1G>T	8.37:g.39564308G>T						ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.I611_splice	p.I635_splice	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		18	1903	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37	c.1903_splice	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826394	0.50739	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1549	0.48482	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39683465	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.455000	0.52993	2.354000	0.79902	0.557000	0.71058	.		PASS	0.333	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	15	8	15	8	---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42868200	42868200	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:42868200C>T	ENST00000307602.4	+	20	2046	c.1846C>T	c.(1846-1848)Cgt>Tgt	p.R616C	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	616	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.R616C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAGGTCATCCGTACTTTAGA	0.323			T	RET	papillary thyroid																																	uc003xpr.2				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1846-1848)CGT>TGT		golgi-associated microtubule-binding protein							39.0	38.0	38.0					8																	42868200		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42868200C>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1846C>T	8.37:g.42868200C>T	ENSP00000305699:p.Arg616Cys						p.R616C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		20	2088	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	616			Potential.|Required for interaction with MSR1.|Required for association with Golgi.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1846C>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693391	0.88735	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.20463	2.07;2.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32745	-0.9895	10	0.72032	D	0.01	-13.5602	20.2441	0.98394	0.0:1.0:0.0:0.0	.	616	Q86VS8	HOOK3_HUMAN	C	616;94	ENSP00000305699:R616C;ENSP00000433953:R94C	ENSP00000305699:R616C	R	+	1	0	HOOK3	42987357	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.437000	0.66544	2.865000	0.98341	0.655000	0.94253	CGT		PASS	0.323	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		28	35	28	35	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43173651	43173651	+	RNA	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:43173651A>T	ENST00000522175.2	+	0	937							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.N358I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTATCAGAAAACCTGACTGAT	0.378																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)AAC>ATC		POTE ankyrin domain family, member A isoform 2							154.0	151.0	152.0					8																	43173651		2198	4298	6496			340441							g.chr8:43173651A>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173651A>T						POTEA_uc003xqa.1_Missense_Mutation_p.N312I	p.N358I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			9	1116	+			358					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1073A>T																																																																																					PASS	0.378	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		15	175	15	175	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733146	52733146	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:52733146C>A	ENST00000360540.5	-	7	1245	c.839G>T	c.(838-840)aGa>aTa	p.R280I	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R204I|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R280I|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	280						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R280I(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTGTTTAACTCTCTTTCTTTT	0.398																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)AGA>ATA		protein-L-isoaspartate (D-aspartate)							168.0	171.0	170.0					8																	52733146		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733146C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.839G>T	8.37:g.52733146C>A	ENSP00000353739:p.Arg280Ile					PCMTD1_uc011ldm.1_Missense_Mutation_p.R150I|PCMTD1_uc003xqw.3_Missense_Mutation_p.R280I|PCMTD1_uc011ldn.1_Missense_Mutation_p.R92I|PCMTD1_uc010lya.2_Missense_Mutation_p.R204I	p.R280I	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1180	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	280					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.839G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895233	0.52121	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.43688	0.94;0.94;0.94	5.97	5.1	0.69264	.	0.047595	0.85682	D	0.000000	T	0.62563	0.2438	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.985;0.996	D;P;D	0.80764	0.994;0.773;0.927	T	0.62072	-0.6931	10	0.33940	T	0.23	-1.8758	15.0455	0.71825	0.0:0.9322:0.0:0.0678	.	150;204;280	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	280;204;280	ENSP00000353739:R280I;ENSP00000444026:R204I;ENSP00000428099:R280I	ENSP00000353739:R280I	R	-	2	0	PCMTD1	52895699	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.364000	0.66110	1.529000	0.49120	0.655000	0.94253	AGA		PASS	0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		11	551	11	551	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540455	55540455	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:55540455T>C	ENST00000220676.1	+	4	4161	c.4013T>C	c.(4012-4014)gTc>gCc	p.V1338A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1338					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V1338A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGTCAATGTCTGCAATACC	0.383																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4012-4014)GTC>GCC		retinitis pigmentosa RP1 protein							107.0	107.0	107.0					8																	55540455		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540455T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4013T>C	8.37:g.55540455T>C	ENSP00000220676:p.Val1338Ala					RP1_uc011ldy.1_Intron	p.V1338A	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4161	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1338						Missense_Mutation	SNP	ENST00000220676.1	37	c.4013T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	2.691	-0.273064	0.05716	.	.	ENSG00000104237	ENST00000220676	T	0.22134	1.97	5.77	-0.169	0.13339	.	0.790541	0.11004	N	0.610204	T	0.08358	0.0208	N	0.12182	0.205	0.09310	N	1	P	0.38922	0.651	B	0.32762	0.152	T	0.26916	-1.0089	10	0.27082	T	0.32	.	4.7026	0.12834	0.4323:0.0896:0.0:0.4781	.	1338	P56715	RP1_HUMAN	A	1338	ENSP00000220676:V1338A	ENSP00000220676:V1338A	V	+	2	0	RP1	55703008	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.547000	0.06055	0.056000	0.16144	0.533000	0.62120	GTC		PASS	0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		116	181	116	181	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59506795	59506795	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:59506795G>A	ENST00000038176.3	-	23	2159	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	NSMAF_ENST00000427130.2_Silent_p.S680S	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	649					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.S680S(1)|p.S649S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACTGACCTTGGGATGTTGTGA	0.428																																						uc003xtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1945-1947)TCC>TCT		neutral sphingomyelinase (N-SMase) activation							122.0	116.0	118.0					8																	59506795		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59506795G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1947C>T	8.37:g.59506795G>A						NSMAF_uc011lee.1_Silent_p.S680S	p.S649S	NM_003580	NP_003571	Q92636	FAN_HUMAN			23	2161	-		all_lung(136;0.174)|Lung NSC(129;0.2)	649			WD 1.		B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.1947C>T	CCDS6173.1																																																																																				PASS	0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		46	73	46	73	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655205	61655205	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:61655205C>T	ENST00000423902.2	+	2	1693	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	CHD7_ENST00000524602.1_Missense_Mutation_p.P405L|CHD7_ENST00000525508.1_Missense_Mutation_p.P405L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	405	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P405L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGAGTAATCCAGCAGGCACT	0.502																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1213-1215)CCA>CTA		chromodomain helicase DNA binding protein 7							116.0	117.0	117.0					8																	61655205		2081	4207	6288	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655205C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1214C>T	8.37:g.61655205C>T	ENSP00000392028:p.Pro405Leu						p.P405L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1691	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	405			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1214C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976911	0.34848	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;D	0.88124	-2.34;0.85;-2.29	5.54	5.54	0.83059	.	0.000000	0.41097	D	0.000955	D	0.84991	0.5595	L	0.43152	1.355	0.58432	D	0.999995	B	0.20052	0.041	B	0.19391	0.025	T	0.81059	-0.1104	10	0.72032	D	0.01	-5.747	19.486	0.95028	0.0:1.0:0.0:0.0	.	405	Q9P2D1	CHD7_HUMAN	L	405	ENSP00000392028:P405L;ENSP00000437061:P405L;ENSP00000436027:P405L	ENSP00000307304:P405L	P	+	2	0	CHD7	61817759	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.894000	0.63206	2.628000	0.89032	0.563000	0.77884	CCA		PASS	0.502	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		40	367	40	367	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61769073	61769073	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:61769073G>C	ENST00000423902.2	+	34	7713	c.7234G>C	c.(7234-7236)Gaa>Caa	p.E2412Q	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2412					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E2412Q(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATTGAGGCCGAAAGAGCTGC	0.478																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7234-7236)GAA>CAA		chromodomain helicase DNA binding protein 7							46.0	46.0	46.0					8																	61769073		1874	4104	5978	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769073G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7234G>C	8.37:g.61769073G>C	ENSP00000392028:p.Glu2412Gln						p.E2412Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7711	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2412			Potential.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7234G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064721	0.93898	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.50277	0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.42245	1.32	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	T	0.59236	-0.7492	10	0.41790	T	0.15	-22.2879	19.9187	0.97077	0.0:0.0:1.0:0.0	.	2412	Q9P2D1	CHD7_HUMAN	Q	2412	ENSP00000392028:E2412Q	ENSP00000307304:E2412Q	E	+	1	0	CHD7	61931627	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.188000	0.94921	2.710000	0.92621	0.563000	0.77884	GAA		PASS	0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	81	5	81	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514019	70514019	+	Missense_Mutation	SNP	G	G	A	rs61747207	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:70514019G>A	ENST00000260128.4	+	10	1733	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R339H(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1015-1017)CGT>CAT		sulfatase 1 precursor		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	404.0	349.0	368.0		1016,1016,1016,1016	6.2	1.0	8	dbSNP_129	368	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	339/872,339/872,339/872,339/872	70514019	4,13002	2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514019G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1016G>A	8.37:g.70514019G>A	ENSP00000260128:p.Arg339His					SULF1_uc003xyd.2_Missense_Mutation_p.R339H|SULF1_uc003xye.2_Missense_Mutation_p.R339H|SULF1_uc003xyf.2_Missense_Mutation_p.R339H|SULF1_uc003xyg.2_Missense_Mutation_p.R339H|SULF1_uc003xyh.1_RNA	p.R339H	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1733	+	Breast(64;0.0654)		339					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1016G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017245	0.97205	0.0	4.65E-4	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.74467	2.265	0.80722	D	1	P	0.51057	0.941	P	0.52646	0.705	D	0.98455	1.0593	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	rs61747207	339	Q8IWU6	SULF1_HUMAN	H	339	ENSP00000403040:R339H;ENSP00000260128:R339H;ENSP00000385704:R339H;ENSP00000390315:R339H	ENSP00000260128:R339H	R	+	2	0	SULF1	70676573	1.000000	0.71417	0.975000	0.42487	0.980000	0.70556	9.808000	0.99193	2.937000	0.99478	0.650000	0.86243	CGT		PASS	0.423	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		76	665	76	665	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70540420	70540420	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:70540420A>T	ENST00000260128.4	+	18	2774	c.2057A>T	c.(2056-2058)gAg>gTg	p.E686V	SULF1_ENST00000458141.2_Missense_Mutation_p.E686V|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E686V|SULF1_ENST00000402687.4_Missense_Mutation_p.E686V	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	686					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.E686V(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAATAAAGAGAAAGGTGTA	0.348																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2056-2058)GAG>GTG		sulfatase 1 precursor							96.0	107.0	103.0					8																	70540420		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70540420A>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2057A>T	8.37:g.70540420A>T	ENSP00000260128:p.Glu686Val					SULF1_uc003xyd.2_Missense_Mutation_p.E686V|SULF1_uc003xye.2_Missense_Mutation_p.E686V|SULF1_uc003xyf.2_Missense_Mutation_p.E686V|SULF1_uc003xyg.2_Missense_Mutation_p.E686V|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	p.E686V	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		18	2774	+	Breast(64;0.0654)		686					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2057A>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	a	17.70	3.454155	0.63290	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.32	4.16	0.48862	Alkaline-phosphatase-like, core domain (1);	0.067131	0.56097	D	0.000025	T	0.27349	0.0671	L	0.54323	1.7	0.39630	D	0.97016	B	0.31227	0.314	B	0.35727	0.209	T	0.05699	-1.0869	10	0.39692	T	0.17	.	11.2205	0.48853	0.9281:0.0:0.0719:0.0	.	686	Q8IWU6	SULF1_HUMAN	V	686	ENSP00000403040:E686V;ENSP00000260128:E686V;ENSP00000385704:E686V;ENSP00000390315:E686V	ENSP00000260128:E686V	E	+	2	0	SULF1	70702974	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.738000	0.47401	0.860000	0.35481	-0.359000	0.07587	GAG		PASS	0.348	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		154	192	154	192	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87588256	87588256	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:87588256C>G	ENST00000320005.5	-	18	2253	c.2206G>C	c.(2206-2208)Gaa>Caa	p.E736Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	736					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E736Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tcttcattttcttttccttta	0.363																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2206-2208)GAA>CAA		cyclic nucleotide gated channel beta 3							177.0	181.0	179.0					8																	87588256		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588256C>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2206G>C	8.37:g.87588256C>G	ENSP00000316605:p.Glu736Gln					CNGB3_uc010maj.2_Missense_Mutation_p.E593Q	p.E736Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			18	2252	-			736			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2206G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	3.447	-0.112881	0.06881	.	.	ENSG00000170289	ENST00000320005	T	0.62105	0.05	2.76	-3.81	0.04294	.	0.590596	0.15581	U	0.254912	T	0.35364	0.0929	L	0.27053	0.805	0.09310	N	1	B;B	0.32160	0.358;0.244	B;B	0.30572	0.117;0.055	T	0.21348	-1.0248	10	0.22706	T	0.39	.	2.3168	0.04200	0.1751:0.3596:0.3452:0.1201	.	731;736	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	736	ENSP00000316605:E736Q	ENSP00000316605:E736Q	E	-	1	0	CNGB3	87657372	0.406000	0.25344	0.001000	0.08648	0.173000	0.22820	0.054000	0.14205	-0.648000	0.05437	-0.518000	0.04402	GAA		PASS	0.363	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		58	166	58	166	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104897620	104897620	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:104897620G>A	ENST00000436393.2	+	2	368	c.127G>A	c.(127-129)Gca>Aca	p.A43T	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.A73T|RIMS2_ENST00000406091.3_Missense_Mutation_p.A265T|RIMS2_ENST00000507740.1_Missense_Mutation_p.A73T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	296	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.A73T(3)|p.A301T(2)|p.A43T(2)|p.A265T(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCGGATACCGCAATGCCTAG	0.413										HNSCC(12;0.0054)																												uc003yls.2																			8	Substitution - Missense(8)		lung(5)|haematopoietic_and_lymphoid_tissue(3)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(127-129)GCA>ACA		regulating synaptic membrane exocytosis 2							98.0	89.0	92.0					8																	104897620		1893	4122	6015	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897620G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.127G>A	8.37:g.104897620G>A	ENSP00000390665:p.Ala43Thr	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.A265T|RIMS2_uc003ylw.2_Missense_Mutation_p.A73T|RIMS2_uc003ylq.2_Missense_Mutation_p.A73T|RIMS2_uc003ylr.2_Missense_Mutation_p.A73T	p.A43T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	368	+			296					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.127G>A		.	.	.	.	.	.	.	.	.	.	G	9.755	1.168599	0.21621	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.36520	1.25;1.25;2.38;2.47;2.46;2.38;2.77	5.31	3.5	0.40072	.	.	.	.	.	T	0.28764	0.0713	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B	0.20550	0.001;0.003;0.012;0.046;0.002	B;B;B;B;B	0.11329	0.002;0.003;0.004;0.006;0.003	T	0.04855	-1.0922	9	0.17832	T	0.49	.	10.9023	0.47059	0.1544:0.0:0.8456:0.0	.	296;43;73;73;265	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	265;296;265;296;73;73;73;73;43	ENSP00000427018:A265T;ENSP00000384892:A265T;ENSP00000425205:A73T;ENSP00000262231:A73T;ENSP00000423559:A73T;ENSP00000386228:A73T;ENSP00000390665:A43T	ENSP00000262231:A73T	A	+	1	0	RIMS2	104966796	1.000000	0.71417	0.964000	0.40570	0.963000	0.63663	3.565000	0.53798	0.605000	0.29947	0.460000	0.39030	GCA		PASS	0.413	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		14	186	14	186	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104987664	104987664	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:104987664G>T	ENST00000436393.2	+	14	2432	c.2191G>T	c.(2191-2193)Ggg>Tgg	p.G731W	RIMS2_ENST00000262231.10_Missense_Mutation_p.G792W|RIMS2_ENST00000406091.3_Missense_Mutation_p.G953W|RIMS2_ENST00000507740.1_Missense_Mutation_p.G745W			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1015	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G745W(2)|p.G731W(1)|p.G953W(1)|p.G1020W(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCACCATCAGGGTCTCCTCA	0.408										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2191-2193)GGG>TGG		regulating synaptic membrane exocytosis 2							102.0	101.0	101.0					8																	104987664		1923	4129	6052	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987664G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2191G>T	8.37:g.104987664G>T	ENSP00000390665:p.Gly731Trp	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.G953W|RIMS2_uc003ylw.2_Missense_Mutation_p.G745W|RIMS2_uc003ylq.2_Missense_Mutation_p.G745W|RIMS2_uc003ylr.2_Missense_Mutation_p.G792W|RIMS2_uc003ylt.2_Missense_Mutation_p.G338W	p.G731W	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2432	+			1015					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2191G>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.092984	0.76756	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19669	2.13;2.7;2.37;2.34;2.3;2.69	4.98	4.98	0.66077	.	.	.	.	.	T	0.38904	0.1058	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.995;0.999;0.998;1.0;0.999	D;D;D;D;D;D	0.77557	0.949;0.96;0.985;0.977;0.99;0.97	T	0.21793	-1.0235	9	0.72032	D	0.01	.	18.6146	0.91297	0.0:0.0:1.0:0.0	.	1015;1015;731;792;745;953	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	W	953;968;953;1015;792;745;745;731	ENSP00000427018:G953W;ENSP00000384892:G953W;ENSP00000262231:G792W;ENSP00000423559:G745W;ENSP00000386228:G745W;ENSP00000390665:G731W	ENSP00000262231:G792W	G	+	1	0	RIMS2	105056840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.067000	0.93955	2.474000	0.83562	0.561000	0.74099	GGG		PASS	0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		39	76	39	76	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139833462	139833462	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:139833462G>T	ENST00000303045.6	-	7	1608	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	COL22A1_ENST00000435777.1_Missense_Mutation_p.L388I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	388	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L388I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGATGGGTAGTGTCTGCACC	0.582										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1162-1164)CTA>ATA		collagen, type XXII, alpha 1							199.0	142.0	161.0					8																	139833462		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833462G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1162C>A	8.37:g.139833462G>T	ENSP00000303153:p.Leu388Ile	HNSCC(7;0.00092)					p.L388I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1609	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		388			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1162C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256678	0.80246	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02197	4.4;4.4	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.39210	N	0.001423	T	0.06050	0.0157	M	0.72894	2.215	0.50467	D	0.999875	D	0.58620	0.983	P	0.47744	0.556	T	0.20773	-1.0265	9	.	.	.	.	13.8735	0.63634	0.0:0.1526:0.8474:0.0	.	388	Q8NFW1	COMA1_HUMAN	I	388	ENSP00000303153:L388I;ENSP00000387655:L388I	.	L	-	1	2	COL22A1	139902644	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	4.325000	0.59234	2.616000	0.88540	0.558000	0.71614	CTA		PASS	0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		81	114	81	114	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890388	139890388	+	Missense_Mutation	SNP	G	G	A	rs369513330		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:139890388G>A	ENST00000303045.6	-	3	709	c.263C>T	c.(262-264)aCg>aTg	p.T88M	COL22A1_ENST00000435777.1_Missense_Mutation_p.T88M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	88	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T88M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCGAAGGCCGTGGTGGGCCG	0.697										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(262-264)ACG>ATG		collagen, type XXII, alpha 1							15.0	18.0	17.0					8																	139890388		2191	4284	6475	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890388G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.263C>T	8.37:g.139890388G>A	ENSP00000303153:p.Thr88Met	HNSCC(7;0.00092)					p.T88M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	710	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		88			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.263C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827891	0.32329	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.79554	-1.28;-1.28	5.28	3.36	0.38483	von Willebrand factor, type A (3);	0.865612	0.09671	U	0.771150	D	0.83408	0.5248	M	0.62154	1.92	0.09310	N	1	D	0.64830	0.994	P	0.53224	0.721	T	0.70572	-0.4835	9	.	.	.	.	9.5141	0.39095	0.0789:0.1435:0.7776:0.0	.	88	Q8NFW1	COMA1_HUMAN	M	88	ENSP00000303153:T88M;ENSP00000387655:T88M	.	T	-	2	0	COL22A1	139959570	0.998000	0.40836	0.002000	0.10522	0.386000	0.30323	2.016000	0.40971	1.194000	0.43101	0.585000	0.79938	ACG		PASS	0.697	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	36	3	36	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140631068	140631068	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr8:140631068G>A	ENST00000520439.1	-	2	621	c.558C>T	c.(556-558)ttC>ttT	p.F186F	KCNK9_ENST00000303015.1_Silent_p.F186F|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	186					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F186F(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	AGGCGTGGAAGAAGCTCCACT	0.587																																						uc003yvf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(556-558)TTC>TTT		potassium channel, subfamily K, member 9							97.0	92.0	93.0					8																	140631068		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631068G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.558C>T	8.37:g.140631068G>A						KCNK9_uc003yvg.1_Silent_p.F186F|KCNK9_uc003yve.1_RNA	p.F186F	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	622	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	186			Extracellular (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.558C>T	CCDS6377.1																																																																																				PASS	0.587	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		17	218	17	218	---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1053757	1053757	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:1053757C>T	ENST00000358146.2	+	2	561	c.561C>T	c.(559-561)ttC>ttT	p.F187F	DMRT2_ENST00000382251.3_Silent_p.F187F|DMRT2_ENST00000259622.6_Silent_p.F187F|DMRT2_ENST00000302441.6_Silent_p.F187F|DMRT2_ENST00000412350.2_Silent_p.F187F|DMRT2_ENST00000382255.3_Silent_p.F187F			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	187					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F187F(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGAATAATTTCGAGCGCAAAG	0.448																																						uc003zha.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(559-561)TTC>TTT		doublesex and mab-3 related transcription factor							85.0	90.0	88.0					9																	1053757		2203	4300	6503	SO:0001819	synonymous_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1053757C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.561C>T	9.37:g.1053757C>T						DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Silent_p.F31F|DMRT2_uc003zhb.3_Silent_p.F187F|DMRT2_uc011llt.1_Silent_p.F187F|DMRT2_uc011llu.1_Silent_p.F187F|DMRT2_uc011llv.1_Silent_p.F187F	p.F187F	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	3	761	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	187					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	c.561C>T	CCDS6444.1																																																																																				PASS	0.448	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		7	237	7	237	---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5078317	5078317	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:5078317C>T	ENST00000381652.3	+	16	2498	c.2004C>T	c.(2002-2004)acC>acT	p.T668T	JAK2_ENST00000539801.1_Silent_p.T668T|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Silent_p.T519T	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	668	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.T668T(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAGAAAACACCCTTATTCATG	0.373		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(2002-2004)ACC>ACT		Janus kinase 2							134.0	146.0	142.0					9																	5078317		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5078317C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2004C>T	9.37:g.5078317C>T						JAK2_uc003ziw.2_Silent_p.T668T	p.T668T	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	15	2117	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	668			Protein kinase 1.		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.2004C>T	CCDS6457.1																																																																																				PASS	0.373	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			67	147	67	147	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300255	5300255	+	Missense_Mutation	SNP	C	C	T	rs61738986	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:5300255C>T	ENST00000381627.3	-	2	789	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	134					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R134H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TTGTCTATTGCGAATAAGTTT	0.393																																						uc003zja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CGC>CAC		relaxin 2 isoform 1 preproprotein							115.0	115.0	115.0					9																	5300255		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300255C>T		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.401G>A	9.37:g.5300255C>T	ENSP00000371040:p.Arg134His					RLN2_uc003ziz.1_3'UTR	p.R134H	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	401	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	134					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.401G>A	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449880	0.12223	.	.	ENSG00000107014	ENST00000381627	T	0.53206	0.63	3.47	-1.6	0.08426	Insulin-like (3);	2.655290	0.01325	N	0.011073	T	0.27559	0.0677	N	0.17082	0.46	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.05886	-1.0858	10	0.13853	T	0.58	.	3.6846	0.08323	0.2421:0.4304:0.0:0.3275	.	134	P04090	REL2_HUMAN	H	134	ENSP00000371040:R134H	ENSP00000371040:R134H	R	-	2	0	RLN2	5290255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.454000	0.06770	-0.316000	0.08690	-0.322000	0.08575	CGC		PASS	0.393	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		78	118	78	118	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	6984351	6984351	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:6984351C>T	ENST00000381309.3	+	10	1866	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	KDM4C_ENST00000543771.1_Missense_Mutation_p.S434F|KDM4C_ENST00000428870.2_Missense_Mutation_p.S121F|KDM4C_ENST00000535193.1_Missense_Mutation_p.S456F|KDM4C_ENST00000381306.3_Missense_Mutation_p.S434F|KDM4C_ENST00000536108.1_Missense_Mutation_p.S253F|KDM4C_ENST00000442236.2_Missense_Mutation_p.S253F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	434					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.S434F(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GAAGAGTCATCTGCTAGCAGG	0.448																																						uc003zkh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1300-1302)TCT>TTT		jumonji domain containing 2C isoform 1							114.0	102.0	106.0					9																	6984351		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6984351C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1301C>T	9.37:g.6984351C>T	ENSP00000370710:p.Ser434Phe					KDM4C_uc010mhu.2_Missense_Mutation_p.S456F|KDM4C_uc011lmi.1_Missense_Mutation_p.S434F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.S434F|KDM4C_uc011lmk.1_Missense_Mutation_p.S253F|KDM4C_uc011lml.1_Missense_Mutation_p.S121F	p.S434F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			10	1881	+			434					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1301C>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	5.400	0.259016	0.10239	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.19105	2.29;2.29;2.47;2.37;2.67;2.17;3.45	5.44	-2.16	0.07080	.	5.390570	0.00166	N	0.000000	T	0.16642	0.0400	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.29716	0.255;0.001;0.001;0.001;0.004	B;B;B;B;B	0.21917	0.037;0.002;0.004;0.002;0.01	T	0.20075	-1.0286	10	0.56958	D	0.05	-5.6325	3.4837	0.07611	0.1436:0.2474:0.0946:0.5144	.	253;434;456;434;434	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	F	456;434;434;434;253;253;121	ENSP00000442382:S456F;ENSP00000445427:S434F;ENSP00000370710:S434F;ENSP00000370707:S434F;ENSP00000409353:S253F;ENSP00000440656:S253F;ENSP00000405739:S121F	ENSP00000370707:S434F	S	+	2	0	KDM4C	6974351	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.390000	0.07332	-0.375000	0.07955	-0.140000	0.14226	TCT		PASS	0.448	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		131	105	131	105	---	---	---	---
IFNA6	3443	broad.mit.edu	37	9	21350654	21350654	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:21350654G>A	ENST00000380210.1	-	1	723	c.233C>T	c.(232-234)tCt>tTt	p.S78F		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	78					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S78F(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGAGGACAGAGATGGCTTC	0.473																																						uc011lni.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)TCT>TTT		interferon, alpha 6 precursor							108.0	105.0	106.0					9																	21350654		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350654G>A		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.233C>T	9.37:g.21350654G>A	ENSP00000369558:p.Ser78Phe						p.S78F	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	233	-			78					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.233C>T	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665886	0.29604	.	.	ENSG00000120235	ENST00000380210	T	0.03689	3.84	3.78	0.636	0.17729	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.892385	0.09627	N	0.776740	T	0.04048	0.0113	L	0.45422	1.42	0.09310	N	1	B	0.21381	0.055	B	0.20955	0.032	T	0.41270	-0.9518	10	0.56958	D	0.05	.	5.5615	0.17146	0.2089:0.166:0.625:0.0	.	78	P05013	IFNA6_HUMAN	F	78	ENSP00000369558:S78F	ENSP00000369558:S78F	S	-	2	0	IFNA6	21340654	0.000000	0.05858	0.002000	0.10522	0.395000	0.30598	-0.072000	0.11486	0.165000	0.19558	-0.216000	0.12614	TCT		PASS	0.473	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		103	182	103	182	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27229209	27229209	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:27229209T>C	ENST00000380036.4	+	23	3796	c.3354T>C	c.(3352-3354)tgT>tgC	p.C1118C	TEK_ENST00000406359.4_Silent_p.C1075C|TEK_ENST00000519097.1_Silent_p.C970C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1118					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C1118C(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GAATTGACTGTTCTGCTGAAG	0.458																																						uc003zqi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(3352-3354)TGT>TGC		TEK tyrosine kinase, endothelial precursor							182.0	165.0	170.0					9																	27229209		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27229209T>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3354T>C	9.37:g.27229209T>C						TEK_uc011lno.1_Silent_p.C1075C|TEK_uc011lnp.1_Silent_p.C970C	p.C1118C	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	23	3796	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1118			Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.3354T>C	CCDS6519.1																																																																																				PASS	0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			12	318	12	318	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37516034	37516034	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:37516034G>A	ENST00000432825.2	-	10	2611	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R380W	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	855					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R861W(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCACGGCCCCGCACGGCGATG	0.542																																						uc004aab.2																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(2563-2565)CGG>TGG		F-box protein 10							154.0	132.0	139.0					9																	37516034		1913	4124	6037	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37516034G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2563C>T	9.37:g.37516034G>A	ENSP00000403802:p.Arg855Trp					FBXO10_uc004aac.2_Missense_Mutation_p.R871W|FBXO10_uc004aad.2_Missense_Mutation_p.R405W	p.R855W	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	10	2612	-			855					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2563C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035907	0.54896	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80480	-1.38;-1.38	5.43	5.43	0.79202	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.609950	0.15903	N	0.238991	T	0.74921	0.3780	N	0.08118	0	0.36695	D	0.879781	D;P;P	0.61697	0.99;0.91;0.91	P;P;P	0.51101	0.659;0.448;0.448	T	0.82014	-0.0667	10	0.59425	D	0.04	-15.3349	17.9996	0.89195	0.0:0.0:1.0:0.0	.	734;380;855	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	W	855;380	ENSP00000403802:R855W;ENSP00000441307:R380W	ENSP00000403802:R855W	R	-	1	2	FBXO10	37506034	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	2.613000	0.46351	2.552000	0.86080	0.511000	0.50034	CGG		PASS	0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			21	166	21	166	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37731012	37731012	+	Missense_Mutation	SNP	G	G	T	rs148192224	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:37731012G>T	ENST00000539465.1	+	9	1363	c.770G>T	c.(769-771)cGc>cTc	p.R257L	FRMPD1_ENST00000541302.1_Missense_Mutation_p.R126L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R257L|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R79L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	257	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R257L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CATGACTACCGCTGCCTCTTC	0.512																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(769-771)CGC>CTC		FERM and PDZ domain containing 1							104.0	97.0	99.0					9																	37731012		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37731012G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.770G>T	9.37:g.37731012G>T	ENSP00000444411:p.Arg257Leu					FRMPD1_uc004aah.1_Missense_Mutation_p.R257L|FRMPD1_uc011lqm.1_Missense_Mutation_p.R79L|FRMPD1_uc011lqn.1_Missense_Mutation_p.R126L	p.R257L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	9	814	+			257			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.770G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312501	0.95655	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.96;0.992	D	0.88203	0.2885	10	0.87932	D	0	-18.7113	17.1917	0.86881	0.0:0.0:1.0:0.0	.	126;257	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	L	257;257;79;126	ENSP00000366995:R257L;ENSP00000444411:R257L;ENSP00000437762:R79L;ENSP00000444804:R126L	ENSP00000366995:R257L	R	+	2	0	FRMPD1	37721012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.312000	0.96287	2.666000	0.90696	0.655000	0.94253	CGC		PASS	0.512	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		51	89	51	89	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72962528	72962528	+	Splice_Site	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:72962528G>C	ENST00000361138.5	+	21	2722		c.e21-1		SMC5_ENST00000471372.1_Splice_Site	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5						cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TCCCCTGCCAGATTGTTCAGG	0.289																																						uc004ahr.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e21-1		SMC5 protein							39.0	40.0	39.0					9																	72962528		2196	4288	6484	SO:0001630	splice_region_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72962528G>C	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2665-1G>C	9.37:g.72962528G>C						SMC5_uc011lry.1_Splice_Site_p.I34_splice	p.I889_splice	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			21	2782	+								A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Splice_Site	SNP	ENST00000361138.5	37	c.2665_splice	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920039	0.33908	.	.	ENSG00000198887	ENST00000361138	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMC5	72152348	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	8.117000	0.89575	2.808000	0.96608	0.650000	0.86243	.		PASS	0.289	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	Intron	23	7	23	7	---	---	---	---
RORB	6096	broad.mit.edu	37	9	77257578	77257578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:77257578C>T	ENST00000396204.2	+	4	517	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	RORB_ENST00000376896.3_Nonsense_Mutation_p.Q162*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	173	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q162*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CGATTCCGGTCAGCCGTCCCC	0.507																																						uc004aji.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(517-519)CAG>TAG		RAR-related orphan receptor B							92.0	79.0	83.0					9																	77257578		2203	4300	6503	SO:0001587	stop_gained	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257578C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.517C>T	9.37:g.77257578C>T	ENSP00000379507:p.Gln173*					RORB_uc004ajh.2_Nonsense_Mutation_p.Q162*	p.Q173*	NM_006914	NP_008845	Q92753	RORB_HUMAN			4	566	+			173			Hinge (Potential).		Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.689152	0.96784	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.95	5.95	0.96441	.	0.259535	0.45867	D	0.000338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	162;173	.	ENSP00000366093:Q162X	Q	+	1	0	RORB	76447398	1.000000	0.71417	0.939000	0.37840	0.740000	0.42216	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CAG		PASS	0.507	RORB-201	KNOWN	basic	protein_coding	protein_coding				15	74	15	74	---	---	---	---
RORB	6096	broad.mit.edu	37	9	77286791	77286791	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:77286791C>T	ENST00000396204.2	+	9	1231	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	RORB_ENST00000376896.3_Missense_Mutation_p.H400Y			Q92753	RORB_HUMAN	RAR-related orphan receptor B	411	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H400Y(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TCAGAAGAATCACCTGGATGA	0.428																																						uc004aji.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1231-1233)CAC>TAC		RAR-related orphan receptor B							53.0	52.0	52.0					9																	77286791		2203	4299	6502	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77286791C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1231C>T	9.37:g.77286791C>T	ENSP00000379507:p.His411Tyr					RORB_uc004ajh.2_Missense_Mutation_p.H400Y	p.H411Y	NM_006914	NP_008845	Q92753	RORB_HUMAN			9	1280	+			411			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	C	28.0	4.885401	0.91814	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96459	-4.02;-4.02	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.046370	0.85682	N	0.000000	D	0.98201	0.9405	M	0.87381	2.88	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.65443	0.935;0.904	D	0.97262	0.9905	10	0.31617	T	0.26	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	411;400	Q92753;Q58EY0	RORB_HUMAN;.	Y	400;411	ENSP00000366093:H400Y;ENSP00000379507:H411Y	ENSP00000366093:H400Y	H	+	1	0	RORB	76476611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.861000	0.98227	0.655000	0.94253	CAC		PASS	0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding				20	32	20	32	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78722196	78722196	+	Silent	SNP	G	G	A	rs41310061	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:78722196G>A	ENST00000545128.1	+	9	1675	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	PCSK5_ENST00000376752.4_Silent_p.T379T|PCSK5_ENST00000376767.3_Silent_p.T379T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	379	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.T379T(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCGTTGCACGGACAACCACA	0.483													G|||	6	0.00119808	0.0008	0.0	5008	,	,		16426	0.0		0.005	False		,,,				2504	0.0					uc004ajz.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(1)	3						c.(1135-1137)ACG>ACA		proprotein convertase subtilisin/kexin type 5		G	,	3,4403	6.2+/-15.9	0,3,2200	68.0	59.0	62.0		1137,1137	-11.7	0.1	9	dbSNP_127	62	25,8575	18.5+/-59.3	0,25,4275	no	coding-synonymous,coding-synonymous	PCSK5	NM_001190482.1,NM_006200.3	,	0,28,6475	AA,AG,GG		0.2907,0.0681,0.2153	,	379/1861,379/914	78722196	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78722196G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1137G>A	9.37:g.78722196G>A						PCSK5_uc004ajy.2_Silent_p.T379T|PCSK5_uc004aka.2_RNA	p.T379T	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			9	1675	+			379			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1137G>A	CCDS55320.1																																																																																				PASS	0.483	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	53	6	53	---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119461837	119461837	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:119461837G>T	ENST00000450136.1	+	2	1977	c.1816G>T	c.(1816-1818)Ggg>Tgg	p.G606W	TRIM32_ENST00000373983.2_Missense_Mutation_p.G606W|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	606					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G606W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TCCTAAGGGTGGGGGCTATAG	0.527																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(1816-1818)GGG>TGG		tripartite motif-containing 32							99.0	95.0	96.0					9																	119461837		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461837G>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1816G>T	9.37:g.119461837G>T	ENSP00000408292:p.Gly606Trp					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.G606W	p.G606W	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1974	+			606			NHL 5.		Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1816G>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542366	0.65198	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.94793	-3.52;-3.52	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.065934	0.64402	D	0.000014	D	0.94775	0.8313	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93894	0.7182	9	.	.	.	-21.5328	19.5873	0.95495	0.0:0.0:1.0:0.0	.	606	Q13049	TRI32_HUMAN	W	606	ENSP00000408292:G606W;ENSP00000363095:G606W	.	G	+	1	0	TRIM32	118501658	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.610000	0.88304	0.650000	0.86243	GGG		PASS	0.527	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		6	148	6	148	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125486622	125486622	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:125486622T>C	ENST00000259466.1	+	1	354	c.354T>C	c.(352-354)tcT>tcC	p.S118S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S118S(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCTGGCCTCTATGGCCATCG	0.478																																						uc004bmu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)TCT>TCC		olfactory receptor, family 1, subfamily L,							126.0	113.0	117.0					9																	125486622		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486622T>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.354T>C	9.37:g.125486622T>C							p.S118S	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	354	+			118			Helical; Name=3; (Potential).		Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.354T>C	CCDS35129.1																																																																																				PASS	0.478	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			40	139	40	139	---	---	---	---
STRBP	55342	broad.mit.edu	37	9	125941312	125941312	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:125941312T>C	ENST00000348403.5	-	4	627	c.198A>G	c.(196-198)aaA>aaG	p.K66K	STRBP_ENST00000360998.3_Silent_p.K52K|STRBP_ENST00000447404.2_Silent_p.K66K	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	66	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				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.K66K(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						CGGCCTCATCTTTCTTCACTT	0.443																																						uc004bns.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(196-198)AAA>AAG		spermatid perinuclear RNA binding protein							243.0	218.0	226.0					9																	125941312		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125941312T>C	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.198A>G	9.37:g.125941312T>C						STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Silent_p.K52K|STRBP_uc004bnv.2_Silent_p.K66K	p.K66K	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			4	628	-			66					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.198A>G	CCDS6851.1																																																																																				PASS	0.443	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			39	222	39	222	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126414402	126414402	+	Splice_Site	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:126414402T>A	ENST00000373624.2	-	9	709	c.508A>T	c.(508-510)Aga>Tga	p.R170*	DENND1A_ENST00000542603.1_5'Flank|DENND1A_ENST00000373620.3_Splice_Site_p.R170*|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Splice_Site_p.R138*|DENND1A_ENST00000394215.2_Splice_Site_p.R140*|DENND1A_ENST00000394219.3_Splice_Site_p.R138*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	170	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R170*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTCAGATTTCTCTAGGAGAAA	0.368																																						uc004bnz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(508-510)AGA>TGA		DENN/MADD domain containing 1A isoform 1							65.0	64.0	64.0					9																	126414402		2203	4300	6503	SO:0001630	splice_region_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126414402T>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.508-1A>T	9.37:g.126414402T>A						DENND1A_uc011lzl.1_5'UTR|DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Nonsense_Mutation_p.R138*|DENND1A_uc004boa.1_Nonsense_Mutation_p.R170*|DENND1A_uc004bob.1_Nonsense_Mutation_p.R140*|DENND1A_uc004boc.2_Nonsense_Mutation_p.R138*	p.R170*	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			9	741	-			170			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Nonsense_Mutation	SNP	ENST00000373624.2	37	c.508A>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	T	41	8.670306	0.98908	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2614	15.1722	0.72884	0.0:0.0:0.0:1.0	.	.	.	.	X	170;138;170;140;138	.	ENSP00000362720:R138X	R	-	1	2	DENND1A	125454223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.222000	0.72286	0.533000	0.62120	AGA		PASS	0.368	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	Nonsense_Mutation	16	25	16	25	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128122903	128122903	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:128122903A>G	ENST00000495955.1	+	27	4485	c.4195A>G	c.(4195-4197)Aga>Gga	p.R1399G	GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1408G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R1360G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R1399G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R1333G|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R1354G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R1381G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R1373G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1399	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1408G(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTGCATCCTGAGAATGTGCTC	0.468																																						uc010mwx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4195-4197)AGA>GGA		GTPase activating protein and VPS9 domains 1							222.0	186.0	198.0					9																	128122903		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128122903A>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4195A>G	9.37:g.128122903A>G	ENSP00000419063:p.Arg1399Gly					GAPVD1_uc004bpp.2_Missense_Mutation_p.R1408G|GAPVD1_uc004bpq.2_Missense_Mutation_p.R1381G|GAPVD1_uc004bpr.2_Missense_Mutation_p.R1360G|GAPVD1_uc004bps.2_Missense_Mutation_p.R1354G|GAPVD1_uc004bpt.2_Missense_Mutation_p.R414G	p.R1399G	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			27	4521	+			1399			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.4195A>G		.	.	.	.	.	.	.	.	.	.	A	20.7	4.036677	0.75617	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.82	3.44	0.39384	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.89601	3.045	0.80722	D	1	D;D;D;D;P;D	0.67145	0.977;0.996;0.971;0.971;0.947;0.99	D;D;P;D;P;D	0.72982	0.914;0.979;0.882;0.919;0.882;0.937	T	0.68735	-0.5330	10	0.72032	D	0.01	.	14.0533	0.64751	0.4643:0.5357:0.0:0.0	.	1399;414;1354;1360;1381;1408	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	G	1354;1408;1399;1373;1333;1399;1381;1360;92	ENSP00000419767:R1354G;ENSP00000377665:R1408G;ENSP00000377664:R1399G;ENSP00000265956:R1373G;ENSP00000377645:R1333G;ENSP00000419063:R1399G;ENSP00000297933:R1381G;ENSP00000309582:R1360G	ENSP00000265956:R1373G	R	+	1	2	GAPVD1	127162724	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.965000	0.40471	0.446000	0.26666	0.482000	0.46254	AGA		PASS	0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			153	48	153	48	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133760617	133760617	+	Silent	SNP	C	C	A	rs11558834	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:133760617C>A	ENST00000318560.5	+	11	3321	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	980	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.P980P(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCCAGCCCCCGTTCCCTCCA	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2938-2940)CCC>CCA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						47.0	58.0	54.0					9																	133760617		2203	4297	6500	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760617C>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2940C>A	9.37:g.133760617C>A						ABL1_uc004bzv.2_Silent_p.P999P	p.P980P	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2943	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	980			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.2940C>A	CCDS35166.1																																																																																				PASS	0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		4	194	4	194	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135202917	135202917	+	Silent	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:135202917G>C	ENST00000224140.5	-	10	4250	c.4068C>G	c.(4066-4068)ccC>ccG	p.P1356P	SETX_ENST00000393220.1_Silent_p.P1356P|SETX_ENST00000372169.2_Silent_p.P1356P	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1356					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.P1356P(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)		TTTGTGATTTGGGTCTGATCT	0.358																																						uc004cbk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(4066-4068)CCC>CCG		senataxin							96.0	96.0	96.0					9																	135202917		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202917G>C	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.4068C>G	9.37:g.135202917G>C						SETX_uc004cbj.2_Silent_p.P975P|SETX_uc010mzt.2_Silent_p.P975P	p.P1356P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4251	-		Myeloproliferative disorder(178;0.204)	1356					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.4068C>G	CCDS6947.1																																																																																				PASS	0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		23	115	23	115	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139902942	139902942	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:139902942G>A	ENST00000371605.3	-	47	7345	c.7198C>T	c.(7198-7200)Cgg>Tgg	p.R2400W	ABCA2_ENST00000341511.6_Missense_Mutation_p.R2401W|ABCA2_ENST00000265662.5_Missense_Mutation_p.R2401W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2400					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.R2401W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAAGTGCCCGGAGCTCCGTG	0.687																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7198-7200)CGG>TGG		ATP-binding cassette, sub-family A, member 2							12.0	15.0	14.0					9																	139902942		1968	4150	6118	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139902942G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7198C>T	9.37:g.139902942G>A	ENSP00000360666:p.Arg2400Trp					ABCA2_uc011mel.1_Missense_Mutation_p.R2401W|ABCA2_uc004ckl.1_Missense_Mutation_p.R2331W|ABCA2_uc004ckm.1_Missense_Mutation_p.R2431W	p.R2400W	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	47	7346	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2400					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.7198C>T		.	.	.	.	.	.	.	.	.	.	G	17.05	3.290650	0.59976	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-1.95;-1.92	3.82	1.9	0.25705	.	0.941144	0.08777	U	0.895295	D	0.85647	0.5745	N	0.24115	0.695	0.36897	D	0.890185	D;D	0.63880	0.993;0.993	P;P	0.53490	0.727;0.727	T	0.81577	-0.0869	10	0.87932	D	0	.	12.3255	0.55009	0.0:0.0:0.5646:0.4354	.	2400;2431	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2401;2400;2431;2401;160;150	ENSP00000265662:R2401W;ENSP00000360666:R2400W;ENSP00000344155:R2401W;ENSP00000420360:R160W;ENSP00000406741:R150W	ENSP00000265662:R2401W	R	-	1	2	ABCA2	139022763	1.000000	0.71417	0.506000	0.27664	0.651000	0.38670	2.316000	0.43761	0.266000	0.21894	0.313000	0.20887	CGG		PASS	0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		21	7	21	7	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139911420	139911420	+	Missense_Mutation	SNP	C	C	A	rs376136854		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr9:139911420C>A	ENST00000371605.3	-	18	2854	c.2707G>T	c.(2707-2709)Gcc>Tcc	p.A903S	ABCA2_ENST00000341511.6_Missense_Mutation_p.A904S|ABCA2_ENST00000265662.5_Missense_Mutation_p.A904S|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	903					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.A904S(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TAGACCACGGCGTCCACCATC	0.657																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2707-2709)GCC>TCC		ATP-binding cassette, sub-family A, member 2							53.0	58.0	56.0					9																	139911420		2095	4216	6311	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911420C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2707G>T	9.37:g.139911420C>A	ENSP00000360666:p.Ala903Ser					ABCA2_uc011mel.1_Missense_Mutation_p.A904S|ABCA2_uc004ckl.1_Missense_Mutation_p.A834S|ABCA2_uc004ckm.1_Missense_Mutation_p.A934S|ABCA2_uc004ckn.1_RNA	p.A903S	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2855	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	903			Helical; (Potential).		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2707G>T		.	.	.	.	.	.	.	.	.	.	C	4.741	0.137811	0.09032	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	T;T;T	0.75704	-0.96;-0.96;-0.96	3.42	1.5	0.22942	.	0.192620	0.44902	U	0.000402	T	0.52789	0.1756	N	0.16862	0.45	0.28387	N	0.919255	B;B	0.21520	0.013;0.057	B;B	0.25140	0.039;0.058	T	0.37033	-0.9723	10	0.23302	T	0.38	.	6.2587	0.20887	0.0:0.6711:0.0:0.3289	.	903;934	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	S	904;903;934;904	ENSP00000265662:A904S;ENSP00000360666:A903S;ENSP00000344155:A904S	ENSP00000265662:A904S	A	-	1	0	ABCA2	139031241	0.558000	0.26554	0.032000	0.17829	0.039000	0.13416	1.178000	0.31981	0.153000	0.19213	0.313000	0.20887	GCC		PASS	0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		128	50	128	50	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1284216	1284216	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:1284216T>C	ENST00000381312.1	-	5	1664	c.1339A>G	c.(1339-1341)Acg>Gcg	p.T447A	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	447	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCAGCTGCGTGTAGAGGAAG	0.701																																						uc009xhq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1339-1341)ACG>GCG		adenosine deaminase, RNA-specific, B2							24.0	24.0	24.0					10																	1284216		2199	4294	6493	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284216T>C	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1339A>G	10.37:g.1284216T>C	ENSP00000370713:p.Thr447Ala						p.T447A	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	5	1713	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	447			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1339A>G	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	T	3.834	-0.035193	0.07543	.	.	ENSG00000185736	ENST00000381312	D	0.93307	-3.2	5.64	0.823	0.18812	Adenosine deaminase/editase (3);	0.305278	0.37577	N	0.002025	T	0.78773	0.4336	N	0.04275	-0.24	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62053	-0.6935	10	0.15499	T	0.54	-9.3436	4.2048	0.10483	0.4182:0.2806:0.0:0.3012	.	447	Q9NS39	RED2_HUMAN	A	447	ENSP00000370713:T447A	ENSP00000370713:T447A	T	-	1	0	ADARB2	1274216	0.520000	0.26250	0.036000	0.18154	0.745000	0.42441	0.143000	0.16115	0.190000	0.20209	0.334000	0.21626	ACG		PASS	0.701	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		17	29	17	29	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13375904	13375904	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:13375904G>T	ENST00000327347.5	-	5	848	c.473C>A	c.(472-474)tCt>tAt	p.S158Y	SEPHS1_ENST00000545675.1_Missense_Mutation_p.S158Y|SEPHS1_ENST00000537130.1_Missense_Mutation_p.S91Y|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S158Y	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	158					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.S158Y(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GCCTGTTACAGATGTTCCTGC	0.423																																						uc001imk.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(472-474)TCT>TAT		selenophosphate synthetase 1							95.0	90.0	92.0					10																	13375904		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375904G>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.473C>A	10.37:g.13375904G>T	ENSP00000367893:p.Ser158Tyr					SEPHS1_uc001imh.2_Missense_Mutation_p.S82Y|SEPHS1_uc010qbs.1_Missense_Mutation_p.S110Y|SEPHS1_uc001imi.2_Missense_Mutation_p.S158Y|SEPHS1_uc001imj.2_Missense_Mutation_p.S158Y|SEPHS1_uc010qbt.1_Missense_Mutation_p.S91Y|SEPHS1_uc009xje.2_Missense_Mutation_p.S158Y	p.S158Y	NM_012247	NP_036379	P49903	SPS1_HUMAN			5	832	-			158					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.473C>A	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930109	0.73327	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130;ENST00000413411;ENST00000425947	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.45	5.45	0.79879	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	M	0.79805	2.47	0.80722	D	1	B;P;B;B;B;B	0.41546	0.387;0.754;0.127;0.252;0.127;0.153	B;B;B;B;B;B	0.38458	0.105;0.274;0.081;0.081;0.081;0.046	T	0.50533	-0.8817	10	0.59425	D	0.04	-11.1843	19.3079	0.94171	0.0:0.0:1.0:0.0	.	110;158;158;158;158;91	B4DLS1;Q5T5U9;P49903;D6PSQ9;D3DRS9;B4DWK0	.;.;SPS1_HUMAN;.;.;.	Y	158;158;158;158;91;158;91	ENSP00000367893:S158Y;ENSP00000367877:S158Y;ENSP00000441119:S158Y;ENSP00000442768:S91Y;ENSP00000401732:S158Y;ENSP00000400418:S91Y	ENSP00000367887:S158Y	S	-	2	0	SEPHS1	13415910	1.000000	0.71417	0.630000	0.29268	0.892000	0.51952	9.852000	0.99516	2.550000	0.86006	0.655000	0.94253	TCT		PASS	0.423	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		19	120	19	120	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17147511	17147511	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:17147511C>A	ENST00000377833.4	-	11	1240	c.1175G>T	c.(1174-1176)tGt>tTt	p.C392F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	392					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C392F(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGCTGCACACATCCATTTGG	0.433																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1174-1176)TGT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						157.0	136.0	143.0					10																	17147511		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17147511C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1175G>T	10.37:g.17147511C>A	ENSP00000367064:p.Cys392Phe						p.C392F	NM_001081	NP_001072	O60494	CUBN_HUMAN			11	1227	-			392					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1175G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843190	0.71488	.	.	ENSG00000107611	ENST00000377833	T	0.50001	0.76	5.65	5.65	0.86999	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.50627	D	0.000105	D	0.82356	0.5019	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89021	0.3435	10	0.87932	D	0	.	19.7106	0.96095	0.0:1.0:0.0:0.0	.	392	O60494	CUBN_HUMAN	F	392	ENSP00000367064:C392F	ENSP00000367064:C392F	C	-	2	0	CUBN	17187517	1.000000	0.71417	0.715000	0.30552	0.464000	0.32679	6.732000	0.74790	2.676000	0.91093	0.591000	0.81541	TGT		PASS	0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		31	92	31	92	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17363299	17363299	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:17363299C>A	ENST00000377602.4	-	8	849	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	259					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.A259S(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CCATAGGTTGCAATGTCCTCC	0.373																																						uc001ipd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GCA>TCA		ST8 alpha-N-acetyl-neuraminide							55.0	62.0	60.0					10																	17363299		2202	4298	6500	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363299C>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.775G>T	10.37:g.17363299C>A	ENSP00000366827:p.Ala259Ser					ST8SIA6_uc010qce.1_RNA	p.A259S	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	775	-			259			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.775G>T	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.703|0.703	-0.790129|-0.790129	0.02884|0.02884	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.28255|.	1.62|.	5.18|5.18	2.21|2.21	0.28008|0.28008	.|.	0.584860|.	0.20618|.	N|.	0.088839|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.10874|0.10874	0.06|0.06	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.12837|.	0.008|.	T|T	0.24548|0.24548	-1.0157|-1.0157	10|5	0.10111|.	T|.	0.7|.	-19.3877|-19.3877	8.5978|8.5978	0.33725|0.33725	0.3948:0.5343:0.0:0.0708|0.3948:0.5343:0.0:0.0708	.|.	259|.	P61647|.	SIA8F_HUMAN|.	S|F	89;259|79	ENSP00000366827:A259S|.	ENSP00000366827:A259S|.	A|C	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403305|17403305	0.002000|0.002000	0.14202|0.14202	0.021000|0.021000	0.16686|0.16686	0.994000|0.994000	0.84299|0.84299	0.864000|0.864000	0.27926|0.27926	0.806000|0.806000	0.34183|0.34183	0.650000|0.650000	0.86243|0.86243	GCA|TGC		PASS	0.373	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		29	97	29	97	---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22171304	22171304	+	Silent	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:22171304A>G	ENST00000376980.3	-	8	1175	c.885T>C	c.(883-885)taT>taC	p.Y295Y		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	295					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y295Y(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AAGACTGAATATATGTAGTTT	0.303																																						uc001irc.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(883-885)TAT>TAC		DnaJ (Hsp40) homolog, subfamily C, member 1							125.0	124.0	124.0					10																	22171304		2202	4298	6500	SO:0001819	synonymous_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22171304A>G	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.885T>C	10.37:g.22171304A>G						DNAJC1_uc001ird.2_Silent_p.Y181Y	p.Y295Y	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			8	1172	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	295			Cytoplasmic (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	c.885T>C	CCDS7136.1																																																																																				PASS	0.303	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		20	90	20	90	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26534906	26534906	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:26534906G>A	ENST00000376261.3	+	8	1400	c.897G>A	c.(895-897)gtG>gtA	p.V299V	GAD2_ENST00000259271.3_Silent_p.V299V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	299					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.V299V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGACAGCGTGATTCTGATTA	0.383																																						uc001isp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(895-897)GTG>GTA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						130.0	121.0	124.0					10																	26534906		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26534906G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.897G>A	10.37:g.26534906G>A						GAD2_uc001isq.2_Silent_p.V299V	p.V299V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			8	1400	+			299					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.897G>A	CCDS7149.1																																																																																				PASS	0.383	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		7	69	7	69	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34573111	34573111	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:34573111G>A	ENST00000374789.3	-	21	3462	c.3137C>T	c.(3136-3138)tCc>tTc	p.S1046F	PARD3_ENST00000374788.3_Missense_Mutation_p.S1043F|PARD3_ENST00000350537.4_Missense_Mutation_p.S1000F|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374790.3_Missense_Mutation_p.S986F|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545260.1_Missense_Mutation_p.S956F|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000545693.1_Missense_Mutation_p.S1030F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1046					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S1046F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGATGTAAAGGATTCCTGTAT	0.338																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3136-3138)TCC>TTC		partitioning-defective protein 3 homolog							233.0	230.0	231.0					10																	34573111		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34573111G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3137C>T	10.37:g.34573111G>A	ENSP00000363921:p.Ser1046Phe					PARD3_uc010qek.1_Missense_Mutation_p.S1043F|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.S1030F|PARD3_uc010qen.1_Missense_Mutation_p.S1000F|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.S956F|PARD3_uc010qeq.1_Intron	p.S1046F	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			21	3137	-		Breast(68;0.0707)	1046					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3137C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945585	0.73672	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000350537;ENST00000374790	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	.	0.710301	0.14511	N	0.315086	T	0.35480	0.0933	N	0.22421	0.69	0.80722	D	1	B;P;P;P;P	0.39520	0.25;0.676;0.676;0.676;0.548	B;P;P;P;B	0.46172	0.323;0.506;0.506;0.506;0.309	T	0.18147	-1.0346	10	0.62326	D	0.03	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	956;1000;1030;1043;1046	Q8TEW0-3;Q8TEW0-6;F5H5T0;Q8TEW0-2;Q8TEW0	.;.;.;.;PARD3_HUMAN	F	1030;956;1046;1043;1000;986	ENSP00000443147:S1030F;ENSP00000440857:S956F;ENSP00000363921:S1046F;ENSP00000363920:S1043F;ENSP00000311986:S1000F;ENSP00000363922:S986F	ENSP00000311986:S1000F	S	-	2	0	PARD3	34613117	1.000000	0.71417	0.603000	0.28903	0.865000	0.49528	5.371000	0.66150	2.764000	0.94973	0.650000	0.86243	TCC		PASS	0.338	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		22	182	22	182	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43292046	43292046	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:43292046G>T	ENST00000374518.5	+	10	1417	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	452					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E452*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAATGTCTGAAGATGACGG	0.438																																						uc001jaj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1354-1356)GAA>TAA		BMS1-like, ribosome assembly protein							218.0	199.0	206.0					10																	43292046		2203	4300	6503	SO:0001587	stop_gained	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292046G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1354G>T	10.37:g.43292046G>T	ENSP00000363642:p.Glu452*						p.E452*	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	1712	+			452					Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	c.1354G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.956741	0.92726	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.81	4.81	0.61882	.	0.867590	0.10379	N	0.681814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.2358	0.89949	0.0:0.0:1.0:0.0	.	.	.	.	X	452	.	ENSP00000363642:E452X	E	+	1	0	BMS1	42612052	1.000000	0.71417	0.981000	0.43875	0.022000	0.10575	8.314000	0.89980	2.360000	0.80028	0.585000	0.79938	GAA		PASS	0.438	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		78	118	78	118	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835813	50835813	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:50835813A>T	ENST00000337653.2	+	7	1246	c.1093A>T	c.(1093-1095)Agg>Tgg	p.R365W	CHAT_ENST00000455728.2_Missense_Mutation_p.R247W|CHAT_ENST00000395562.2_Missense_Mutation_p.R283W|CHAT_ENST00000351556.3_Missense_Mutation_p.R247W|CHAT_ENST00000395559.2_Missense_Mutation_p.R247W|CHAT_ENST00000339797.1_Missense_Mutation_p.R247W	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	365					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.R365W(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCCGAGGCCAGGACGGTCCT	0.592																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1093-1095)AGG>TGG		choline acetyltransferase isoform 2	Choline(DB00122)						71.0	58.0	62.0					10																	50835813		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835813A>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1093A>T	10.37:g.50835813A>T	ENSP00000337103:p.Arg365Trp					CHAT_uc001jhv.1_Missense_Mutation_p.R247W|CHAT_uc001jhx.1_Missense_Mutation_p.R247W|CHAT_uc001jhy.1_Missense_Mutation_p.R247W|CHAT_uc001jia.2_Missense_Mutation_p.R247W|CHAT_uc010qgs.1_Missense_Mutation_p.R247W	p.R365W	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1246	+		all_neural(218;0.107)	365					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1093A>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335391	0.81801	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.35	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.964;0.999	D	0.93963	0.7242	10	0.72032	D	0.01	-28.1248	11.8815	0.52578	0.6701:0.3299:0.0:0.0	.	247;365	F8W8I2;P28329	.;CLAT_HUMAN	W	247;247;247;365;283;247	ENSP00000343486:R247W;ENSP00000345878:R247W;ENSP00000378926:R247W;ENSP00000337103:R365W;ENSP00000378929:R283W;ENSP00000390521:R247W	ENSP00000337103:R365W	R	+	1	2	CHAT	50505819	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.549000	0.53681	2.146000	0.66826	0.482000	0.46254	AGG		PASS	0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		33	92	33	92	---	---	---	---
NRBF2	29982	broad.mit.edu	37	10	64913362	64913362	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:64913362G>T	ENST00000277746.6	+	4	429	c.248G>T	c.(247-249)aGa>aTa	p.R83I	NRBF2_ENST00000435510.2_Missense_Mutation_p.R73I	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	83					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)		p.R83I(1)		large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CGTGAAGAAAGATTGAAAGCC	0.493																																						uc001jmj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AGA>ATA		nuclear receptor binding factor 2							42.0	44.0	43.0					10																	64913362		2203	4300	6503	SO:0001583	missense	29982				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding	g.chr10:64913362G>T	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.248G>T	10.37:g.64913362G>T	ENSP00000277746:p.Arg83Ile					NRBF2_uc010qip.1_Missense_Mutation_p.R73I	p.R83I	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN			4	472	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		83					A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP	ENST00000277746.6	37	c.248G>T	CCDS7268.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659001	0.47467	.	.	ENSG00000148572	ENST00000277746;ENST00000395241;ENST00000435510	.	.	.	5.78	4.88	0.63580	.	0.211918	0.48286	D	0.000196	T	0.67524	0.2902	M	0.62723	1.935	0.46823	D	0.999219	D;D	0.56746	0.973;0.977	P;P	0.60609	0.877;0.765	T	0.69803	-0.5046	9	0.66056	D	0.02	-8.5122	9.0074	0.36120	0.2323:0.0:0.7677:0.0	.	73;83	B4DWS0;Q96F24	.;NRBF2_HUMAN	I	83;83;73	.	ENSP00000277746:R83I	R	+	2	0	NRBF2	64583368	1.000000	0.71417	0.028000	0.17463	0.556000	0.35491	4.037000	0.57311	1.465000	0.48006	0.563000	0.77884	AGA		PASS	0.493	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		22	68	22	68	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81373751	81373751	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:81373751A>G	ENST00000398636.3	+	6	767	c.629A>G	c.(628-630)aAc>aGc	p.N210S	SFTPA1_ENST00000372308.3_Missense_Mutation_p.N210S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.N225S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.N210S|SFTPA1_ENST00000372313.5_Missense_Mutation_p.N151S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	210	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.N225S(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AACTACACCAACTGGTACCGA	0.557																																						uc001kap.2																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)AAC>AGC		surfactant protein A1 isoform 1							198.0	202.0	200.0					10																	81373751		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373751A>G	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.629A>G	10.37:g.81373751A>G	ENSP00000381633:p.Asn210Ser					SFTPA1_uc001kaq.2_Missense_Mutation_p.N210S|SFTPA1_uc009xry.2_Missense_Mutation_p.N225S|SFTPA1_uc001kar.2_Missense_Mutation_p.N210S|SFTPA1_uc010qlt.1_Missense_Mutation_p.N151S|SFTPA1_uc009xrz.2_Missense_Mutation_p.N140S|SFTPA1_uc009xsa.2_Missense_Mutation_p.N210S|SFTPA1_uc009xsf.2_RNA	p.N210S	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	750	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		210			C-type lectin.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.629A>G	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	12.95	2.092794	0.36952	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	2.89	1.74	0.24563	C-type lectin fold (2);C-type lectin-like (2);C-type lectin (6);	0.067174	0.64402	D	0.000014	T	0.68118	0.2966	L	0.49455	1.56	0.32254	N	0.571008	D;D;D	0.89917	0.995;0.994;1.0	P;P;D	0.81914	0.876;0.804;0.995	T	0.70200	-0.4937	10	0.62326	D	0.03	-13.677	6.3268	0.21248	0.8689:0.0:0.1311:0.0	.	210;225;210	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	S	210;210;210;151;225;210	ENSP00000361382:N210S;ENSP00000381633:N210S;ENSP00000411102:N210S;ENSP00000361387:N151S;ENSP00000397082:N225S	ENSP00000361382:N210S	N	+	2	0	SFTPA1	81043757	0.948000	0.32251	0.991000	0.47740	0.464000	0.32679	2.429000	0.44758	0.508000	0.28173	0.247000	0.18012	AAC		PASS	0.557	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		178	247	178	247	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85970803	85970803	+	Missense_Mutation	SNP	C	C	G	rs142742994		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:85970803C>G	ENST00000372117.3	+	13	1470	c.1367C>G	c.(1366-1368)gCg>gGg	p.A456G	CDHR1_ENST00000440770.2_Intron|CDHR1_ENST00000332904.3_Missense_Mutation_p.A456G	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	456	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.A456G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTTCCACAGCGGATGTTGTG	0.562																																						uc001kcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1366-1368)GCG>GGG		protocadherin 21 precursor							140.0	136.0	138.0					10																	85970803		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85970803C>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1367C>G	10.37:g.85970803C>G	ENSP00000361189:p.Ala456Gly					CDHR1_uc001kcw.2_Missense_Mutation_p.A456G|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	p.A456G	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			13	1367	+			456			Cadherin 4.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1367C>G	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385046	0.82792	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.61392	0.11;0.11	5.94	5.94	0.96194	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.87578	0.894;0.998	T	0.81820	-0.0757	10	0.72032	D	0.01	-12.7606	19.1308	0.93406	0.0:1.0:0.0:0.0	.	456;456	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	G	456	ENSP00000331063:A456G;ENSP00000361189:A456G	ENSP00000331063:A456G	A	+	2	0	CDHR1	85960783	1.000000	0.71417	0.227000	0.23927	0.593000	0.36681	7.416000	0.80143	2.816000	0.96949	0.563000	0.77884	GCG		PASS	0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		194	216	194	216	---	---	---	---
CEP55	55165	broad.mit.edu	37	10	95276824	95276824	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:95276824A>G	ENST00000371485.3	+	6	1116	c.812A>G	c.(811-813)gAa>gGa	p.E271G		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	271					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.E271G(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAATATGAAGAAACCCAAAAA	0.363																																						uc009xug.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)GAA>GGA		centrosomal protein 55kDa							73.0	75.0	74.0					10																	95276824		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276824A>G	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.812A>G	10.37:g.95276824A>G	ENSP00000360540:p.Glu271Gly					CEP55_uc001kiq.3_Missense_Mutation_p.E271G	p.E271G	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			6	994	+		Colorectal(252;0.207)	271			Potential.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.812A>G	CCDS7428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.233802|4.233802	0.79688|0.79688	.|.	.|.	ENSG00000138180|ENSG00000138180	ENST00000371485;ENST00000358339|ENST00000445435	T|.	0.19938|.	2.11|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.270733|.	0.42548|.	D|.	0.000687|.	T|T	0.70002|0.70002	0.3174|0.3174	L|L	0.59436|0.59436	1.845|1.845	0.44771|0.44771	D|D	0.997773|0.997773	D|.	0.76494|.	0.999|.	D|.	0.66084|.	0.941|.	T|T	0.68667|0.68667	-0.5348|-0.5348	10|5	0.72032|.	D|.	0.01|.	-23.0226|-23.0226	14.6131|14.6131	0.68529|0.68529	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	271|.	Q53EZ4|.	CEP55_HUMAN|.	G|E	271|111	ENSP00000360540:E271G|.	ENSP00000351102:E271G|.	E|K	+|+	2|1	0|0	CEP55|CEP55	95266814|95266814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.301000|4.301000	0.59086|0.59086	2.188000|2.188000	0.69820|0.69820	0.459000|0.459000	0.35465|0.35465	GAA|AAA		PASS	0.363	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		59	70	59	70	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97919144	97919144	+	RNA	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:97919144G>T	ENST00000534948.1	+	0	3922							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.C1022F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACAATAATTGTCTTACACCT	0.433																																						uc001klp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3064-3066)TGT>TTT		zinc finger protein 518							58.0	56.0	56.0					10																	97919144		1856	4089	5945			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919144G>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919144G>T						ZNF518A_uc001klo.1_Missense_Mutation_p.C492F|ZNF518A_uc001klq.2_Missense_Mutation_p.C1022F|ZNF518A_uc001klr.2_Missense_Mutation_p.C1022F	p.C1022F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	3922	+		Colorectal(252;0.0815)	1022					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3065G>T																																																																																					PASS	0.433	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		20	45	20	45	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117093820	117093820	+	Silent	SNP	C	C	T	rs112084285		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:117093820C>T	ENST00000355044.3	+	19	3192	c.3066C>T	c.(3064-3066)tgC>tgT	p.C1022C	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1022	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.C1022C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATAGCACTTGCATCAATAATA	0.353																																						uc001lcg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3064-3066)TGC>TGT		attractin-like 1 precursor							116.0	102.0	107.0					10																	117093820		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117093820C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3066C>T	10.37:g.117093820C>T						ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron	p.C1022C	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3452	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1022			Laminin EGF-like 1.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3066C>T	CCDS7592.1																																																																																				PASS	0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	66	20	66	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118084897	118084897	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:118084897T>C	ENST00000333254.3	+	3	413	c.162T>C	c.(160-162)tcT>tcC	p.S54S	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	54								p.S54S(1)									AGCTGGAATCTAAGGTATTGA	0.343																																						uc001lck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(160-162)TCT>TCC		hypothetical protein LOC374355							50.0	51.0	50.0					10																	118084897		2203	4300	6503	SO:0001819	synonymous_variant	374355							g.chr10:118084897T>C	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.162T>C	10.37:g.118084897T>C							p.S54S	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	3	413	+		Lung NSC(174;0.204)|all_lung(145;0.248)	54			Potential.			Silent	SNP	ENST00000333254.3	37	c.162T>C	CCDS31291.1																																																																																				PASS	0.343	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		14	19	14	19	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118084900	118084900	+	Splice_Site	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:118084900G>A	ENST00000333254.3	+	3	416	c.165G>A	c.(163-165)aaG>aaA	p.K55K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	55								p.K55K(1)									TGGAATCTAAGGTATTGAAAT	0.348																																						uc001lck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(163-165)AAG>AAA		hypothetical protein LOC374355							49.0	50.0	49.0					10																	118084900		2203	4300	6503	SO:0001630	splice_region_variant	374355							g.chr10:118084900G>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.165+1G>A	10.37:g.118084900G>A							p.K55K	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	3	416	+		Lung NSC(174;0.204)|all_lung(145;0.248)	55			Potential.			Silent	SNP	ENST00000333254.3	37	c.165G>A	CCDS31291.1																																																																																				PASS	0.348	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	Silent	13	17	13	17	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119017365	119017365	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:119017365G>T	ENST00000298472.5	+	10	1096	c.953G>T	c.(952-954)tGg>tTg	p.W318L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	318					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.W318L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCCCATCTGGATGATGGAG	0.567																																						uc001ldd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)TGG>TTG		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						84.0	73.0	77.0					10																	119017365		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119017365G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.953G>T	10.37:g.119017365G>T	ENSP00000298472:p.Trp318Leu					SLC18A2_uc009xyy.1_Missense_Mutation_p.W115L	p.W318L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	10	984	+		Colorectal(252;0.19)	318			Lumenal, vesicle (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.953G>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347456	0.95807	.	.	ENSG00000165646	ENST00000298472	T	0.54866	0.55	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82882	-0.0237	10	0.66056	D	0.02	-11.8864	20.4384	0.99098	0.0:0.0:1.0:0.0	.	318	Q05940	VMAT2_HUMAN	L	318	ENSP00000298472:W318L	ENSP00000298472:W318L	W	+	2	0	SLC18A2	119007355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.868000	0.99621	2.831000	0.97527	0.644000	0.83932	TGG		PASS	0.567	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		41	47	41	47	---	---	---	---
FAM45A	404636	broad.mit.edu	37	10	120867505	120867505	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:120867505G>T	ENST00000361432.2	+	2	107	c.81G>T	c.(79-81)ctG>ctT	p.L27L	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Silent_p.L27L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	27								p.L27L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GAGAAGTTCTGTGGGTGTGGT	0.438																																						uc001ldw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(79-81)CTG>CTT		hypothetical protein LOC404636							147.0	139.0	142.0					10																	120867505		2203	4300	6503	SO:0001819	synonymous_variant	404636							g.chr10:120867505G>T	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.81G>T	10.37:g.120867505G>T						FAM45A_uc010qsv.1_Silent_p.L19L|FAM45A_uc010qsw.1_5'UTR|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_5'UTR	p.L27L	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	2	125	+		Lung NSC(174;0.094)|all_lung(145;0.123)	27					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	c.81G>T	CCDS7609.1																																																																																				PASS	0.438	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		74	198	74	198	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440183	135440183	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr10:135440183G>T	ENST00000425520.1	-	1	116	c.64C>A	c.(64-66)Ccc>Acc	p.P22T	FRG2B_ENST00000443774.1_Missense_Mutation_p.P22T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	22						nucleus (GO:0005634)		p.P22T(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)		TGGAAAGGGGGCTGGTCAGTG	0.502																																						uc010qvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CCC>ACC		FSHD region gene 2 family, member B							96.0	123.0	114.0					10																	135440183		2201	4295	6496	SO:0001583	missense	441581					nucleus		g.chr10:135440183G>T	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.64C>A	10.37:g.135440183G>T	ENSP00000401310:p.Pro22Thr						p.P22T	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	117	-		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)	22					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.64C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	4.359	0.066214	0.08388	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.36699	1.24;1.24	0.109	0.109	0.14578	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	P	0.45474	0.482	T	0.12451	-1.0547	8	0.33940	T	0.23	-1.1262	.	.	.	.	22	Q96QU4	FRG2B_HUMAN	T	22	ENSP00000408343:P22T;ENSP00000401310:P22T	ENSP00000401310:P22T	P	-	1	0	FRG2B	135290173	0.998000	0.40836	0.046000	0.18839	0.047000	0.14425	0.831000	0.27476	0.181000	0.19994	0.184000	0.17185	CCC		PASS	0.502	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		29	485	29	485	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5345319	5345319	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:5345319A>C	ENST00000328813.2	-	1	263	c.209T>G	c.(208-210)aTg>aGg	p.M70R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M70R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGTCACCATGAGGTCTGT	0.507																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(208-210)ATG>AGG		olfactory receptor, family 51, subfamily B,							136.0	113.0	121.0					11																	5345319		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345319A>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.209T>G	11.37:g.5345319A>C	ENSP00000327540:p.Met70Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.M70R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	264	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	70			Helical; Name=2; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.209T>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280575	0.23392	.	.	ENSG00000184881	ENST00000328813	T	0.19250	2.16	4.39	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	0.389995	0.17901	U	0.158186	T	0.13030	0.0316	L	0.29908	0.895	0.09310	N	1	B	0.23377	0.084	B	0.23716	0.048	T	0.22382	-1.0218	10	0.87932	D	0	.	7.6552	0.28371	0.3695:0.5161:0.1144:0.0	.	70	Q9Y5P1	O51B2_HUMAN	R	70	ENSP00000327540:M70R	ENSP00000327540:M70R	M	-	2	0	OR51B2	5301895	0.000000	0.05858	0.003000	0.11579	0.931000	0.56810	-3.522000	0.00443	-0.121000	0.11787	0.524000	0.50904	ATG		PASS	0.507	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		30	87	30	87	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862213	5862213	+	Silent	SNP	C	C	T	rs540768482		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:5862213C>T	ENST00000329322.5	-	1	914	c.915G>A	c.(913-915)ctG>ctA	p.L305L	OR52E6_ENST00000379946.2_Silent_p.L309L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAATCCTCAGCACTGTCT	0.443																																						uc010qzq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(913-915)CTG>CTA		olfactory receptor, family 52, subfamily E,							94.0	91.0	92.0					11																	5862213		1960	4189	6149	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862213C>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.915G>A	11.37:g.5862213C>T						TRIM5_uc001mbq.1_Intron	p.L305L	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	915	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	305			Cytoplasmic (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.915G>A	CCDS53597.1																																																																																				PASS	0.443	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		11	89	11	89	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8947122	8947122	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:8947122T>C	ENST00000326053.5	-	5	1198	c.1092A>G	c.(1090-1092)gcA>gcG	p.A364A	C11orf16_ENST00000525780.1_Silent_p.A364A|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	364								p.A364A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTGTGTTGACTGCACTGTTCA	0.552																																						uc001mhb.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1090-1092)GCA>GCG		hypothetical protein LOC56673							95.0	81.0	86.0					11																	8947122		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8947122T>C	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1092A>G	11.37:g.8947122T>C						C11orf16_uc001mhc.3_Silent_p.A364A	p.A364A	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1216	-			364					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1092A>G	CCDS7794.1																																																																																				PASS	0.552	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		19	81	19	81	---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10602078	10602078	+	Nonsense_Mutation	SNP	C	C	A	rs531394235		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:10602078C>A	ENST00000436272.1	-	19	2416	c.2338G>T	c.(2338-2340)Gaa>Taa	p.E780*	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E716*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E716*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E492*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E798*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E492*|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E492*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E799*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E716*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E807*|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E601*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E492*|MRVI1-AS1_ENST00000529829.1_RNA			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	780	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.E780*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCTTCTGTTCTTCCTCCTCC	0.493																																						uc010rcc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2419-2421)GAA>TAA		JAW1-related protein isoform c							189.0	191.0	190.0					11																	10602078		1887	4116	6003	SO:0001587	stop_gained	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10602078C>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2338G>T	11.37:g.10602078C>A	ENSP00000412229:p.Glu780*					uc001miu.2_Intron|MRVI1_uc001miw.2_Nonsense_Mutation_p.E798*|MRVI1_uc010rcb.1_Nonsense_Mutation_p.E799*|MRVI1_uc009ygb.1_Nonsense_Mutation_p.E492*|MRVI1_uc001mix.2_Nonsense_Mutation_p.E492*|MRVI1_uc001miz.2_Nonsense_Mutation_p.E716*|MRVI1_uc009ygc.1_Nonsense_Mutation_p.E716*|MRVI1_uc010rcd.1_Nonsense_Mutation_p.E601*|MRVI1_uc009ygd.1_Nonsense_Mutation_p.E492*	p.E807*	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	20	2805	-			780			Glu-rich.		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Nonsense_Mutation	SNP	ENST00000436272.1	37	c.2419G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.675037	0.98425	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	.	.	.	5.34	5.34	0.76211	.	0.086607	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.0394	19.023	0.92922	0.0:1.0:0.0:0.0	.	.	.	.	X	798;781;780;716;716;492;492;807;601;799;716	.	ENSP00000307885:E781X	E	-	1	0	MRVI1	10558654	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.878000	0.63093	2.639000	0.89480	0.655000	0.94253	GAA		PASS	0.493	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		5	255	5	255	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195697	18195697	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:18195697G>A	ENST00000314254.3	+	1	1314	c.894G>A	c.(892-894)aaG>aaA	p.K298K	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K298K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCAGGACAAGCCTGAGGTGG	0.557																																						uc001mnv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(892-894)AAG>AAA		MAS-related GPR, member X4							64.0	68.0	67.0					11																	18195697		2199	4293	6492	SO:0001819	synonymous_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195697G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.894G>A	11.37:g.18195697G>A							p.K298K	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	1314	+			298			Cytoplasmic (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	37	c.894G>A	CCDS7831.1																																																																																				PASS	0.557	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		28	98	28	98	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955915	18955915	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:18955915T>C	ENST00000302797.3	-	1	641	c.417A>G	c.(415-417)tcA>tcG	p.S139S	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	139					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S139S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACCACCGCTGACAGGTGTG	0.617																																						uc001mpg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(415-417)TCA>TCG		MAS-related GPR, member X1							89.0	78.0	81.0					11																	18955915		2194	4285	6479	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955915T>C		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.417A>G	11.37:g.18955915T>C							p.S139S	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	635	-			139			Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.417A>G	CCDS7846.1																																																																																				PASS	0.617	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		26	89	26	89	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26730881	26730881	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:26730881A>G	ENST00000396005.3	-	4	812	c.503T>C	c.(502-504)gTt>gCt	p.V168A	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V168A	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	168					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.V168A(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAATGTGCAAACAATTCCTGT	0.378																																						uc001mra.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(502-504)GTT>GCT		solute carrier family 5 (sodium/glucose							61.0	58.0	59.0					11																	26730881		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26730881A>G	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.503T>C	11.37:g.26730881A>G	ENSP00000379326:p.Val168Ala					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V168A	p.V168A	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			4	816	-			168			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.503T>C	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505756	0.85282	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87412	-2.25;-2.25	5.66	4.52	0.55395	.	0.066716	0.64402	D	0.000017	D	0.93546	0.7940	M	0.86740	2.835	0.54753	D	0.999986	P;D	0.69078	0.939;0.997	P;D	0.76575	0.721;0.988	D	0.93712	0.7025	10	0.87932	D	0	.	12.0434	0.53466	0.8706:0.0:0.0:0.1294	.	168;168	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	A	168	ENSP00000379326:V168A;ENSP00000280467:V168A	ENSP00000280467:V168A	V	-	2	0	SLC5A12	26687457	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.287000	0.95975	0.943000	0.37553	0.533000	0.62120	GTT		PASS	0.378	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		13	27	13	27	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32954413	32954413	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:32954413G>C	ENST00000399302.2	+	4	1557	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	408	Ser-rich.							p.E408Q(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGTTACAAATGAGAATTACCC	0.393																																						uc001mty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1222-1224)GAG>CAG		glutamine and serine rich 1							80.0	74.0	76.0					11																	32954413		1856	4093	5949	SO:0001583	missense	79832							g.chr11:32954413G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1222G>C	11.37:g.32954413G>C	ENSP00000382241:p.Glu408Gln					QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	p.E408Q	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	1489	+	Breast(20;0.158)		408			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.1222G>C	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660894	0.47572	.	.	ENSG00000060749	ENST00000399302	T	0.51325	0.71	4.73	4.73	0.59995	.	0.000000	0.41500	U	0.000866	T	0.46927	0.1418	L	0.57536	1.79	0.80722	D	1	B	0.32245	0.361	B	0.31686	0.134	T	0.46610	-0.9179	10	0.35671	T	0.21	.	18.0553	0.89362	0.0:0.0:1.0:0.0	.	408	Q2KHR3	QSER1_HUMAN	Q	408	ENSP00000382241:E408Q	ENSP00000382241:E408Q	E	+	1	0	QSER1	32910989	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.103000	0.77014	2.348000	0.79779	0.467000	0.42956	GAG		PASS	0.393	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		18	131	18	131	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49204779	49204779	+	Missense_Mutation	SNP	C	C	A	rs116795343	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:49204779C>A	ENST00000256999.2	-	7	1102	c.842G>T	c.(841-843)cGt>cTt	p.R281L	FOLH1_ENST00000356696.3_Missense_Mutation_p.R281L|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266L|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266L	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(841-843)CGT>CTT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						72.0	73.0	73.0					11																	49204779		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49204779C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>T	11.37:g.49204779C>A	ENSP00000256999:p.Arg281Leu					FOLH1_uc001ngz.2_Missense_Mutation_p.R281L|FOLH1_uc009yly.2_Missense_Mutation_p.R266L|FOLH1_uc009ylz.2_Missense_Mutation_p.R266L|FOLH1_uc009yma.2_5'UTR	p.R281L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			7	1103	-			281			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.842G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.171429	0.00315	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.07818	0.0196	N	0.00368	-1.59	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.49153	-0.8969	10	0.05833	T	0.94	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	L	281;281;266;266;281	ENSP00000256999:R281L;ENSP00000349129:R281L;ENSP00000344131:R266L;ENSP00000431463:R266L	ENSP00000256999:R281L	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT		PASS	0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	63	14	63	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55658796	55658796	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:55658796C>A	ENST00000449290.2	+	7	1139	c.1047C>A	c.(1045-1047)gaC>gaA	p.D349E	TRIM51_ENST00000244891.3_Missense_Mutation_p.D206E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	349	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D190E(1)|p.D349E(1)									ATATGGGGGACTCTTGGAATT	0.423																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)GAC>GAA		SPRY domain containing 5							68.0	74.0	72.0					11																	55658796		2109	4065	6174	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658796C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1047C>A	11.37:g.55658796C>A	ENSP00000395086:p.Asp349Glu					SPRYD5_uc010riq.1_Missense_Mutation_p.D206E	p.D349E	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1139	+		all_epithelial(135;0.226)	349			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1047C>A		.	.	.	.	.	.	.	.	.	.	.	9.224	1.034130	0.19590	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.61742	0.08;0.08	1.36	-0.026	0.13932	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.45716	0.1356	L	0.49513	1.565	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.32402	-0.9908	9	0.30078	T	0.28	.	5.44	0.16501	0.0:0.6429:0.3571:0.0	.	349	Q9BSJ1	SPRY5_HUMAN	E	349;206	ENSP00000395086:D349E;ENSP00000244891:D206E	ENSP00000244891:D206E	D	+	3	2	SPRYD5	55415372	0.060000	0.20803	0.010000	0.14722	0.507000	0.33981	0.036000	0.13819	-0.313000	0.08728	0.162000	0.16502	GAC		PASS	0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		73	146	73	146	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57102589	57102589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:57102589C>A	ENST00000278412.2	-	2	273	c.7G>T	c.(7-9)Gag>Tag	p.E3*		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	3					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E3*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCCAGTGTCTCTGCCATGTCG	0.567																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(7-9)GAG>TAG		structure specific recognition protein 1							308.0	291.0	297.0					11																	57102589		2201	4296	6497	SO:0001587	stop_gained	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57102589C>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.7G>T	11.37:g.57102589C>A	ENSP00000278412:p.Glu3*					SSRP1_uc010rjq.1_Nonsense_Mutation_p.E3*	p.E3*	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			2	274	-			3					Q5BJG8	Nonsense_Mutation	SNP	ENST00000278412.2	37	c.7G>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222520	0.98712	.	.	ENSG00000149136	ENST00000278412	.	.	.	5.94	5.94	0.96194	.	0.047267	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9544	0.97215	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000278412:E3X	E	-	1	0	SSRP1	56859165	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.322000	0.79097	2.816000	0.96949	0.563000	0.77884	GAG		PASS	0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		412	487	412	487	---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60635139	60635139	+	Silent	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:60635139A>T	ENST00000278853.5	+	1	105	c.105A>T	c.(103-105)ccA>ccT	p.P35P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	35					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P35P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGGCCTCCCAGGCCTCCGGC	0.662																																						uc001nqd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)CCA>CCT		zona pellucida glycoprotein 1 precursor							57.0	47.0	50.0					11																	60635139		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60635139A>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.105A>T	11.37:g.60635139A>T						ZP1_uc001nqe.2_5'Flank	p.P35P	NM_207341	NP_997224	P60852	ZP1_HUMAN			1	125	+			35			Extracellular (Potential).			Silent	SNP	ENST00000278853.5	37	c.105A>T	CCDS31572.1																																																																																				PASS	0.662	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		19	58	19	58	---	---	---	---
SCGB2A2	4250	broad.mit.edu	37	11	62038457	62038458	+	Missense_Mutation	DNP	GC	GC	AT	rs372833801		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:62038457_62038458GC>AT	ENST00000227918.2	+	2	222_223	c.160_161GC>AT	c.(160-162)GCc>ATc	p.A54I	SCGB2A2_ENST00000525380.1_Missense_Mutation_p.A54I	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	54								p.A54V(1)|p.A54T(1)|p.A54I(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGACGACAATGCCACTACAAAT	0.376																																						uc001ntc.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(160-162)GCC>ACC|c.(160-162)GCC>GTC		secretoglobin, family 2A, member 2 precursor																																				SO:0001583	missense	4250					extracellular region	steroid binding	g.chr11:62038457G>A|g.chr11:62038458C>T	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"""Secretoglobins"""	7050	protein-coding gene	gene with protein product	"""mammaglobin A"""	605562	"""mammaglobin 1"""	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	Exception_encountered	11.37:g.62038457_62038458delinsAT	ENSP00000227918:p.Ala54Ile					SCGB2A2_uc009ynx.2_Missense_Mutation_p.A54T|SCGB2A2_uc009ynx.2_Missense_Mutation_p.A54V	p.A54T|p.A54V	NM_002411	NP_002402	Q13296	SG2A2_HUMAN			2	219|220	+			54					A1A522|Q86WH8	Missense_Mutation	SNP	ENST00000227918.2	37	c.160G>A|c.161C>T	CCDS8018.1																																																																																				PASS	0.376	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		103	127	103	127	---	---	---	---
ESRRA	2101	broad.mit.edu	37	11	64074792	64074792	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:64074792C>G	ENST00000405666.1	+	2	375	c.141C>G	c.(139-141)ctC>ctG	p.L47L	ESRRA_ENST00000000442.6_Silent_p.L47L|ESRRA_ENST00000406310.1_Silent_p.L47L|RP11-783K16.10_ENST00000539086.1_RNA	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	47	Repressor domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 negative regulation of transcription (GO:0001078)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L47L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTCGCTGCCTCCCAGGCCACA	0.697																																						uc001nzq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CTC>CTG		estrogen-related receptor alpha							21.0	25.0	24.0					11																	64074792		2002	4147	6149	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64074792C>G	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.141C>G	11.37:g.64074792C>G						ESRRA_uc001nzr.1_Silent_p.L47L|ESRRA_uc001nzs.1_Silent_p.L47L	p.L47L	NM_004451	NP_004442	P11474	ERR1_HUMAN			2	318	+			47			Repressor domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.141C>G	CCDS41667.1																																																																																				PASS	0.697	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		13	77	13	77	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76372428	76372428	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:76372428C>T	ENST00000407242.2	-	3	451	c.209G>A	c.(208-210)gGc>gAc	p.G70D	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G70D|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.G70D	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	70					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.G70D(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTGTAGAAGCCCAGGGGTGA	0.622																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GGC>GAC		leucine rich repeat containing 32 precursor							76.0	69.0	71.0					11																	76372428		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372428C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.209G>A	11.37:g.76372428C>T	ENSP00000384126:p.Gly70Asp					LRRC32_uc001oxr.3_Missense_Mutation_p.G70D|LRRC32_uc010rsf.1_Missense_Mutation_p.G70D	p.G70D	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	452	-			70			LRR 1.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.209G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.165023	0.06502	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.98	1.78	0.24846	.	0.847679	0.10826	N	0.629859	T	0.33294	0.0858	L	0.33245	0.995	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.12837	0.008;0.003	T	0.23119	-1.0197	10	0.12103	T	0.63	.	2.922	0.05772	0.364:0.3749:0.1744:0.0867	.	70;70	C9JYU3;Q14392	.;LRC32_HUMAN	D	70	ENSP00000260061:G70D;ENSP00000384126:G70D;ENSP00000385766:G70D;ENSP00000413331:G70D	ENSP00000260061:G70D	G	-	2	0	LRRC32	76050076	0.023000	0.18921	0.994000	0.49952	0.971000	0.66376	1.173000	0.31920	0.673000	0.31224	0.561000	0.74099	GGC		PASS	0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		24	143	24	143	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101833343	101833343	+	Missense_Mutation	SNP	A	A	G	rs537245238	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:101833343A>G	ENST00000263468.8	+	6	1847	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	KIAA1377_ENST00000537689.1_Missense_Mutation_p.Y327C	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	526								p.Y526C(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAAGATGCCTATATACCTCAC	0.303													A|||	3	0.000599042	0.0	0.0	5008	,	,		18825	0.003		0.0	False		,,,				2504	0.0					uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1576-1578)TAT>TGT		hypothetical protein LOC57562							39.0	41.0	40.0					11																	101833343		2202	4294	6496	SO:0001583	missense	57562						protein binding	g.chr11:101833343A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1577A>G	11.37:g.101833343A>G	ENSP00000263468:p.Tyr526Cys					KIAA1377_uc001pgn.2_Missense_Mutation_p.Y482C|KIAA1377_uc010run.1_Missense_Mutation_p.Y327C|KIAA1377_uc009yxa.1_Missense_Mutation_p.Y327C	p.Y526C	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1847	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	526					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1577A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	2.822	-0.244642	0.05906	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06528	3.29;3.29	4.93	-6.55	0.01854	.	1.145430	0.06422	N	0.722536	T	0.03608	0.0103	N	0.13235	0.315	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.45116	-0.9283	10	0.36615	T	0.2	4.1659	8.5879	0.33668	0.3183:0.2289:0.4528:0.0	.	526	Q9P2H0	K1377_HUMAN	C	526;327	ENSP00000263468:Y526C;ENSP00000443184:Y327C	ENSP00000263468:Y526C	Y	+	2	0	KIAA1377	101338553	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	-0.492000	0.06467	-1.518000	0.01778	0.533000	0.62120	TAT		PASS	0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		13	31	13	31	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102586136	102586136	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:102586136C>G	ENST00000236826.3	-	7	1033	c.935G>C	c.(934-936)aGa>aCa	p.R312T		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	312					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R312T(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CATTTCGACTCTTTGTAGCTG	0.398																																						uc001phe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(934-936)AGA>ACA		matrix metalloproteinase 8 preproprotein							106.0	96.0	99.0					11																	102586136		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102586136C>G	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.935G>C	11.37:g.102586136C>G	ENSP00000236826:p.Arg312Thr					MMP8_uc010rut.1_Missense_Mutation_p.R247T|MMP8_uc010ruu.1_Missense_Mutation_p.R289T	p.R312T	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	7	1034	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	312			Hemopexin-like 1.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.935G>C	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.903|9.903	1.207402|1.207402	0.22205|0.22205	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.02656	.|4.21	5.47|5.47	-10.6|-10.6	0.00265|0.00265	.|Hemopexin/matrixin (2);	.|3.006100	.|0.00815	.|N	.|0.001537	T|T	0.01835|0.01835	0.0058|0.0058	N|N	0.16166|0.16166	0.38|0.38	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.001;0.0	.|B;B;B	.|0.09377	.|0.002;0.004;0.002	T|T	0.37572|0.37572	-0.9700|-0.9700	5|10	.|0.36615	.|T	.|0.2	.|.	8.3842|8.3842	0.32491|0.32491	0.0728:0.1561:0.5537:0.2174|0.0728:0.1561:0.5537:0.2174	.|.	.|312;247;312	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	N|T	287|312;289;247	.|ENSP00000236826:R312T	.|ENSP00000236826:R312T	K|R	-|-	3|2	2|0	MMP8|MMP8	102091346|102091346	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-4.578000|-4.578000	0.00213|0.00213	-1.936000|-1.936000	0.01048|0.01048	-0.182000|-0.182000	0.12963|0.12963	AAG|AGA		PASS	0.398	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		18	110	18	110	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113146071	113146071	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:113146071G>A	ENST00000316851.7	+	18	2509	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	847					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.D302N(1)|p.D846N(1)|p.D837N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGTCCCCAATGACGCCACACA	0.517																																						uc001pnt.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(244-246)GAC>AAC		Homo sapiens cDNA FLJ30008 fis, clone 3NB692000029.							75.0	99.0	91.0					11																	113146071		2149	4251	6400	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113146071G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2509G>A	11.37:g.113146071G>A	ENSP00000318472:p.Asp837Asn					NCAM1_uc001pns.2_3'UTR|uc010rwu.1_5'Flank	p.D82N			P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	2	812	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	847			Cytoplasmic (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37	c.244G>A		.	.	.	.	.	.	.	.	.	.	G	15.04	2.715490	0.48622	.	.	ENSG00000149294	ENST00000316851;ENST00000433634	T	0.56275	0.47	5.45	5.45	0.79879	.	0.251092	0.30830	U	0.008791	T	0.47875	0.1469	.	.	.	0.54753	D	0.999981	B;B;B	0.20780	0.0;0.039;0.048	B;B;B	0.26517	0.0;0.07;0.043	T	0.30179	-0.9987	9	0.29301	T	0.29	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	302;837;847	B4DSQ7;P13591-1;P13591	.;.;NCAM1_HUMAN	N	837;302	ENSP00000318472:D837N	ENSP00000318472:D837N	D	+	1	0	NCAM1	112651281	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	6.176000	0.71955	2.836000	0.97738	0.655000	0.94253	GAC		PASS	0.517	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615		7	38	7	38	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117314643	117314643	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:117314643C>T	ENST00000321322.6	-	21	4002	c.4001G>A	c.(4000-4002)gGc>gAc	p.G1334D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1064D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1274	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G1334D(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGCTGTTGCCCCGGCCGGC	0.607																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4000-4002)GGC>GAC		Down syndrome cell adhesion molecule like 1							37.0	36.0	36.0					11																	117314643		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117314643C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4001G>A	11.37:g.117314643C>T	ENSP00000315465:p.Gly1334Asp						p.G1334D	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	21	4003	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1274			Extracellular (Potential).|Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4001G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106796	0.94292	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63417	-0.04;-0.04	4.59	4.59	0.56863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86268	0.5892	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91368	0.5117	9	0.87932	D	0	.	17.5974	0.88016	0.0:1.0:0.0:0.0	.	1274	Q8TD84	DSCL1_HUMAN	D	1064;1334;1041	ENSP00000434335:G1064D;ENSP00000315465:G1334D	ENSP00000315465:G1334D	G	-	2	0	DSCAML1	116819853	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.582000	0.82546	2.365000	0.80145	0.313000	0.20887	GGC		PASS	0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		17	100	17	100	---	---	---	---
VPS11	55823	broad.mit.edu	37	11	118947642	118947642	+	Missense_Mutation	SNP	G	G	T	rs539555921		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:118947642G>T	ENST00000300793.6	+	9	1313	c.1271G>T	c.(1270-1272)cGc>cTc	p.R424L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	425					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.R424L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TACGTGATCCGCAAGTTTCTG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20044	0.001		0.0	False		,,,				2504	0.0					uc010ryx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1273-1275)CGC>CTC		vacuolar protein sorting 11							81.0	88.0	86.0					11																	118947642		2128	4227	6355	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118947642G>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1271G>T	11.37:g.118947642G>T	ENSP00000475301:p.Arg424Leu					VPS11_uc010ryy.1_Missense_Mutation_p.R271L	p.R425L	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	9	1316	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	425			Clathrin.		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1274G>T																																																																																					PASS	0.542	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		36	34	36	34	---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119206720	119206720	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:119206720G>C	ENST00000311413.4	+	1	1484	c.888G>C	c.(886-888)caG>caC	p.Q296H	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	296						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q296H(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCAGTCTGCAGCTGGCGAGTT	0.642																																						uc001pwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)CAG>CAC		ring finger protein 26							27.0	30.0	29.0					11																	119206720		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206720G>C	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.888G>C	11.37:g.119206720G>C	ENSP00000312439:p.Gln296His						p.Q296H	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	296					Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.888G>C	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022878	0.35701	.	.	ENSG00000173456	ENST00000311413	T	0.35048	1.33	5.42	1.36	0.22044	.	0.271194	0.30969	N	0.008511	T	0.29945	0.0749	L	0.50333	1.59	0.33876	D	0.635598	B	0.17465	0.022	B	0.11329	0.006	T	0.32640	-0.9899	10	0.72032	D	0.01	-15.7788	9.0122	0.36148	0.3611:0.0:0.6389:0.0	.	296	Q9BY78	RNF26_HUMAN	H	296	ENSP00000312439:Q296H	ENSP00000312439:Q296H	Q	+	3	2	RNF26	118711930	0.988000	0.35896	0.980000	0.43619	0.292000	0.27327	0.489000	0.22387	0.259000	0.21709	-0.339000	0.08088	CAG		PASS	0.642	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		52	63	52	63	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132398972	132398972	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:132398972C>T	ENST00000331898.7	-	3	1087	c.509G>A	c.(508-510)aGa>aAa	p.R170K	OPCML_ENST00000541867.1_Missense_Mutation_p.R170K|OPCML_ENST00000374778.4_Missense_Mutation_p.R129K|OPCML_ENST00000524381.1_Missense_Mutation_p.R163K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	170	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.R170K(1)|p.R163K(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGACAGGTGTCTCCATGTCAC	0.483																																						uc001qgs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(508-510)AGA>AAA		opioid binding protein/cell adhesion							137.0	101.0	113.0					11																	132398972		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132398972C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.509G>A	11.37:g.132398972C>T	ENSP00000330862:p.Arg170Lys					OPCML_uc001qgu.2_Missense_Mutation_p.R163K|OPCML_uc010sck.1_Missense_Mutation_p.R170K|OPCML_uc001qgt.2_Missense_Mutation_p.R170K|OPCML_uc010scl.1_Missense_Mutation_p.R129K	p.R170K	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	3	559	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	170			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.509G>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857477	0.51376	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.38560	1.33;1.33;1.13;1.13	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102861	0.64402	D	0.000004	T	0.35508	0.0934	L	0.35341	1.055	0.37220	D	0.905202	B;B;B;B	0.17465	0.022;0.022;0.004;0.004	B;B;B;B	0.26969	0.047;0.075;0.047;0.047	T	0.25398	-1.0133	10	0.45353	T	0.12	-16.3492	13.0611	0.59008	0.0:0.9231:0.0:0.0769	.	170;163;170;170	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	170;163;129;137;170	ENSP00000330862:R170K;ENSP00000434750:R163K;ENSP00000363910:R129K;ENSP00000445496:R170K	ENSP00000330862:R170K	R	-	2	0	OPCML	131904182	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.085000	0.50151	2.800000	0.96347	0.455000	0.32223	AGA		PASS	0.483	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		21	74	21	74	---	---	---	---
SPATA19	219938	broad.mit.edu	37	11	133715280	133715280	+	Missense_Mutation	SNP	A	A	T	rs201668593	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:133715280A>T	ENST00000299140.3	-	1	116	c.62T>A	c.(61-63)cTa>cAa	p.L21Q	SPATA19_ENST00000532889.1_Missense_Mutation_p.L21Q	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	21					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.L21Q(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGTTATTGGTAGGAAGGGAAG	0.458													A|||	2	0.000399361	0.0	0.0029	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.0					uc001qgv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CTA>CAA		spermatogenesis associated 19 precursor		A	GLN/LEU	0,4402		0,0,2201	114.0	112.0	113.0		62	4.6	1.0	11		113	4,8590	3.7+/-12.6	0,4,4293	yes	missense	SPATA19	NM_174927.1	113	0,4,6494	TT,TA,AA		0.0465,0.0,0.0308	possibly-damaging	21/168	133715280	4,12992	2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715280A>T	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.62T>A	11.37:g.133715280A>T	ENSP00000299140:p.Leu21Gln						p.L21Q	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	1	113	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	21					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.62T>A	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133179	0.56828	0.0	4.65E-4	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.46063	0.88;0.88	5.48	4.56	0.56223	.	0.107491	0.41938	D	0.000797	T	0.24624	0.0597	N	0.08118	0	0.26998	N	0.964989	P	0.35982	0.531	B	0.37833	0.259	T	0.13072	-1.0523	10	0.54805	T	0.06	-23.3125	9.5174	0.39113	0.1006:0.0:0.8994:0.0	.	21	Q7Z5L4	SPT19_HUMAN	Q	21	ENSP00000299140:L21Q;ENSP00000435248:L21Q	ENSP00000299140:L21Q	L	-	2	0	SPATA19	133220490	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	3.113000	0.50376	1.289000	0.44618	-0.468000	0.05107	CTA		PASS	0.458	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		47	77	47	77	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790529	133790529	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:133790529G>T	ENST00000321016.8	-	18	3321	c.3091C>A	c.(3091-3093)Cct>Act	p.P1031T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1031T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1031	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P1031T(1)|p.P487T(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCTCCTGTAGGTGTCTGAGTC	0.677																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3091-3093)CCT>ACT		immunoglobulin superfamily, member 9B							61.0	69.0	66.0					11																	133790529		2044	4206	6250	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790529G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3091C>A	11.37:g.133790529G>T	ENSP00000317980:p.Pro1031Thr						p.P1031T	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3322	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1031			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3091C>A		.	.	.	.	.	.	.	.	.	.	g	14.24	2.476654	0.44044	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76060	-0.68;-0.99	4.93	4.93	0.64822	.	0.000000	0.44097	D	0.000482	T	0.63260	0.2496	L	0.27053	0.805	0.38843	D	0.956116	P	0.43477	0.808	B	0.36534	0.227	T	0.71474	-0.4582	10	0.56958	D	0.05	.	17.7942	0.88565	0.0:0.0:1.0:0.0	.	1031	Q9UPX0	TUTLB_HUMAN	T	1031;873	ENSP00000317980:P1031T;ENSP00000436552:P873T	ENSP00000317980:P1031T	P	-	1	0	IGSF9B	133295739	1.000000	0.71417	0.271000	0.24616	0.936000	0.57629	8.483000	0.90442	2.286000	0.76751	0.550000	0.68814	CCT		PASS	0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		33	188	33	188	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	248014	248014	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:248014G>C	ENST00000538872.1	+	4	1603	c.1485G>C	c.(1483-1485)caG>caC	p.Q495H	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.Q192H|IQSEC3_ENST00000326261.4_Missense_Mutation_p.Q495H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	495					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.Q495H(1)|p.Q192H(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCGCCAACCAGAACATATCCG	0.721																																						uc001qhw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(574-576)CAG>CAC		IQ motif and Sec7 domain 3							44.0	38.0	40.0					12																	248014		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248014G>C	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1485G>C	12.37:g.248014G>C	ENSP00000437554:p.Gln495His					IQSEC3_uc001qhu.1_Missense_Mutation_p.Q192H|IQSEC3_uc001qht.1_Missense_Mutation_p.Q277H|uc001qhv.1_Intron	p.Q192H	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	582	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		495					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.576G>C	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382446	0.42207	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.10763	2.84;2.84;2.86	4.95	4.95	0.65309	.	7.222980	0.00166	N	0.000000	T	0.16896	0.0406	L	0.49350	1.555	0.46458	D	0.999059	B;B	0.17667	0.013;0.023	B;B	0.12156	0.003;0.007	T	0.21586	-1.0241	10	0.33141	T	0.24	.	13.8743	0.63643	0.0:0.1529:0.8471:0.0	.	495;192	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	H	495;495;192	ENSP00000437554:Q495H;ENSP00000315662:Q495H;ENSP00000372292:Q192H	ENSP00000315662:Q495H	Q	+	3	2	IQSEC3	118275	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	2.906000	0.48735	2.291000	0.77112	0.561000	0.74099	CAG		PASS	0.721	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		7	75	7	75	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	461444	461444	+	Missense_Mutation	SNP	C	C	A	rs185024467		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:461444C>A	ENST00000399788.2	-	9	1438	c.1076G>T	c.(1075-1077)cGa>cTa	p.R359L	KDM5A_ENST00000382815.4_Missense_Mutation_p.R359L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	359					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R359L(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTATACTCTCGTACAGCTTG	0.363			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1075-1077)CGA>CTA		retinoblastoma binding protein 2 isoform 1							103.0	96.0	98.0					12																	461444		1810	4086	5896	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:461444C>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1076G>T	12.37:g.461444C>A	ENSP00000382688:p.Arg359Leu					KDM5A_uc001qie.1_Missense_Mutation_p.R359L|KDM5A_uc010sdn.1_Missense_Mutation_p.R318L|KDM5A_uc010sdo.1_Intron	p.R359L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			9	1439	-			359					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.1076G>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524104	0.85600	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	T;T	0.71579	-0.58;-0.58	4.6	4.6	0.57074	.	0.056141	0.64402	D	0.000002	D	0.85539	0.5720	M	0.85373	2.75	0.54753	D	0.999984	D;P;D	0.67145	0.996;0.7;0.965	D;B;P	0.72982	0.979;0.201;0.888	D	0.88663	0.3190	10	0.87932	D	0	-6.7541	17.4292	0.87534	0.0:1.0:0.0:0.0	.	359;359;359	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	L	318;359;359	ENSP00000382688:R359L;ENSP00000372265:R359L	ENSP00000372265:R359L	R	-	2	0	KDM5A	331705	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.108000	0.64289	0.655000	0.94253	CGA		PASS	0.363	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		52	90	52	90	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2721167	2721167	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:2721167C>G	ENST00000347598.4	+	30	3876	c.3876C>G	c.(3874-3876)gcC>gcG	p.A1292A	CACNA1C_ENST00000402845.3_Silent_p.A1272A|CACNA1C_ENST00000399638.1_Silent_p.A1272A|CACNA1C_ENST00000399595.1_Silent_p.A1272A|CACNA1C_ENST00000344100.3_Silent_p.A1272A|CACNA1C_ENST00000399597.1_Silent_p.A1272A|CACNA1C_ENST00000406454.3_Silent_p.A1272A|CACNA1C_ENST00000399644.1_Silent_p.A1272A|CACNA1C_ENST00000399601.1_Silent_p.A1272A|CACNA1C_ENST00000327702.7_Silent_p.A1272A|CACNA1C_ENST00000399641.1_Silent_p.A1272A|CACNA1C_ENST00000399603.1_Silent_p.A1272A|CACNA1C_ENST00000399591.1_Silent_p.A1272A|CACNA1C_ENST00000399649.1_Silent_p.A1272A|CACNA1C_ENST00000399621.1_Silent_p.A1272A|CACNA1C_ENST00000335762.5_Silent_p.A1297A|CACNA1C_ENST00000399617.1_Silent_p.A1272A|CACNA1C_ENST00000399634.1_Silent_p.A1272A|CACNA1C_ENST00000399655.1_Silent_p.A1272A|CACNA1C_ENST00000480911.1_Silent_p.A1272A|CACNA1C_ENST00000399637.1_Silent_p.A1272A|CACNA1C_ENST00000399629.1_Silent_p.A1272A|CACNA1C_ENST00000399606.1_Silent_p.A1292A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1292					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1272A(2)|p.A1322A(1)|p.A807A(1)|p.A1292A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCTCATTGCCTTCAAACCCA	0.532																																						uc009zdu.1																			5	Substitution - coding silent(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(3874-3876)GCC>GCG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						112.0	107.0	108.0					12																	2721167		2161	4287	6448	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2721167C>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3876C>G	12.37:g.2721167C>G						CACNA1C_uc009zdv.1_Silent_p.A1269A|CACNA1C_uc001qkb.2_Silent_p.A1272A|CACNA1C_uc001qkc.2_Silent_p.A1272A|CACNA1C_uc001qke.2_Silent_p.A1272A|CACNA1C_uc001qkf.2_Silent_p.A1272A|CACNA1C_uc001qjz.2_Silent_p.A1272A|CACNA1C_uc001qkd.2_Silent_p.A1272A|CACNA1C_uc001qkg.2_Silent_p.A1272A|CACNA1C_uc009zdw.1_Silent_p.A1272A|CACNA1C_uc001qkh.2_Silent_p.A1272A|CACNA1C_uc001qkl.2_Silent_p.A1292A|CACNA1C_uc001qkn.2_Silent_p.A1272A|CACNA1C_uc001qko.2_Silent_p.A1292A|CACNA1C_uc001qkp.2_Silent_p.A1272A|CACNA1C_uc001qkr.2_Silent_p.A1272A|CACNA1C_uc001qku.2_Silent_p.A1272A|CACNA1C_uc001qkq.2_Silent_p.A1272A|CACNA1C_uc001qks.2_Silent_p.A1272A|CACNA1C_uc001qkt.2_Silent_p.A1272A|CACNA1C_uc001qka.1_Silent_p.A807A|CACNA1C_uc001qki.1_Silent_p.A1008A|CACNA1C_uc001qkj.1_Silent_p.A1008A|CACNA1C_uc001qkk.1_Silent_p.A1008A|CACNA1C_uc001qkm.1_Silent_p.A1008A	p.A1292A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	30	4189	+			1292			Helical; Name=S2 of repeat IV; (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.3876C>G	CCDS44788.1																																																																																				PASS	0.532	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		35	76	35	76	---	---	---	---
FGF6	2251	broad.mit.edu	37	12	4553375	4553375	+	Missense_Mutation	SNP	C	C	T	rs532205756		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:4553375C>T	ENST00000228837.2	-	2	417	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	125					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.R125Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CACCACGCCTCGCTCCACAGT	0.537																																						uc001qmr.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(373-375)CGA>CAA		fibroblast growth factor 6 precursor							83.0	69.0	74.0					12																	4553375		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4553375C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.374G>A	12.37:g.4553375C>T	ENSP00000228837:p.Arg125Gln						p.R125Q	NM_020996	NP_066276	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		2	418	-			125					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.374G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375391	0.42105	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	D;D	0.81659	-1.52;-1.52	5.63	3.76	0.43208	.	0.049913	0.85682	N	0.000000	T	0.75243	0.3823	M	0.75777	2.31	0.58432	D	0.999997	P	0.40931	0.733	B	0.32211	0.142	T	0.72343	-0.4322	10	0.36615	T	0.2	.	11.0175	0.47698	0.0:0.8002:0.1299:0.0698	.	125	P10767	FGF6_HUMAN	Q	4;125	ENSP00000445479:R4Q;ENSP00000228837:R125Q	ENSP00000228837:R125Q	R	-	2	0	FGF6	4423636	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	5.999000	0.70665	0.697000	0.31718	0.561000	0.74099	CGA		PASS	0.537	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		9	108	9	108	---	---	---	---
CLEC12A	160364	broad.mit.edu	37	12	10132050	10132050	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:10132050G>T	ENST00000304361.4	+	3	488	c.306G>T	c.(304-306)aaG>aaT	p.K102N	CLEC12A_ENST00000434319.2_Missense_Mutation_p.K102N|CLEC12A_ENST00000355690.4_Missense_Mutation_p.K112N|CLEC12A_ENST00000350667.4_Missense_Mutation_p.K69N	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.K102N(1)|p.K112N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCCAACAAGATCAGGAACC	0.353																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(304-306)AAG>AAT		myeloid inhibitory C-type lectin-like receptor							86.0	79.0	81.0					12																	10132050		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10132050G>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.306G>T	12.37:g.10132050G>T	ENSP00000302804:p.Lys102Asn					CLEC12A_uc001qwq.2_Missense_Mutation_p.K112N|CLEC12A_uc001qws.3_Missense_Mutation_p.K69N|CLEC12A_uc001qwt.2_Missense_Mutation_p.K31N	p.K102N	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			3	494	+			102			Extracellular (Potential).		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.306G>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243659	0.22796	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.41	0.355	0.16069	C-type lectin-like (1);	.	.	.	.	T	0.14917	0.0360	L	0.56769	1.78	0.09310	N	0.999996	B;B;B	0.24721	0.11;0.067;0.11	B;B;B	0.20184	0.028;0.012;0.028	T	0.28106	-1.0054	9	0.56958	D	0.05	.	3.7402	0.08527	0.2966:0.0:0.5321:0.1713	.	69;102;112	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	N	112;102;102;102;69	ENSP00000347916:K112N;ENSP00000379764:K102N;ENSP00000302804:K102N;ENSP00000405244:K102N;ENSP00000345448:K69N	ENSP00000302804:K102N	K	+	3	2	CLEC12A	10023317	0.010000	0.17322	0.035000	0.18076	0.267000	0.26476	0.336000	0.19823	-0.034000	0.13713	-0.142000	0.14014	AAG		PASS	0.353	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		15	35	15	35	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717454	13717454	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:13717454C>G	ENST00000609686.1	-	13	2927	c.2718G>C	c.(2716-2718)aaG>aaC	p.K906N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	906					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.K906N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGCCATGTTCTTGGCCGTGC	0.592																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2716-2718)AAG>AAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						160.0	147.0	151.0					12																	13717454		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717454C>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2718G>C	12.37:g.13717454C>G	ENSP00000477455:p.Lys906Asn						p.K906N	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	2897	-			906			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2718G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718651	0.48622	.	.	ENSG00000150086	ENST00000279593	T	0.17054	2.3	5.43	3.56	0.40772	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	M	0.68317	2.08	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.08764	-1.0706	10	0.56958	D	0.05	.	9.9127	0.41415	0.0:0.7848:0.0:0.2152	.	906	Q13224	NMDE2_HUMAN	N	906	ENSP00000279593:K906N	ENSP00000279593:K906N	K	-	3	2	GRIN2B	13608721	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.672000	0.46850	1.272000	0.44329	0.655000	0.94253	AAG		PASS	0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			175	311	175	311	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717533	13717533	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:13717533C>G	ENST00000609686.1	-	13	2848	c.2639G>C	c.(2638-2640)cGc>cCc	p.R880P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R880P(1)|p.R880H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACAGACTGGCGCTCCTCGAT	0.537																																						uc001rbt.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2638-2640)CGC>CCC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						110.0	99.0	103.0					12																	13717533		2203	4298	6501	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717533C>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2639G>C	12.37:g.13717533C>G	ENSP00000477455:p.Arg880Pro						p.R880P	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	2818	-			880			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2639G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563344	0.45694	.	.	ENSG00000150086	ENST00000279593	T	0.12569	2.67	5.3	4.41	0.53225	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.277359	0.39687	N	0.001290	T	0.20333	0.0489	L	0.29908	0.895	0.54753	D	0.999983	P	0.46987	0.888	P	0.55260	0.772	T	0.01146	-1.1437	10	0.49607	T	0.09	.	13.8298	0.63373	0.0:0.9257:0.0:0.0743	.	880	Q13224	NMDE2_HUMAN	P	880	ENSP00000279593:R880P	ENSP00000279593:R880P	R	-	2	0	GRIN2B	13608800	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.986000	0.56937	1.238000	0.43771	0.563000	0.77884	CGC		PASS	0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			120	237	120	237	---	---	---	---
C12orf77	196415	broad.mit.edu	37	12	25149149	25149149	+	Missense_Mutation	SNP	G	G	T	rs201330932		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:25149149G>T	ENST00000549828.1	-	2	332	c.128C>A	c.(127-129)aCg>aAg	p.T43K	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	43								p.T43K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GGATGTAAGCGTATAATTTGT	0.403																																						uc001rgf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)ACG>AAG		hypothetical protein LOC196415							135.0	131.0	132.0					12																	25149149		1935	4153	6088	SO:0001583	missense	196415							g.chr12:25149149G>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.128C>A	12.37:g.25149149G>T	ENSP00000447146:p.Thr43Lys						p.T43K	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			2	333	-			43						Missense_Mutation	SNP	ENST00000549828.1	37	c.128C>A	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301248	0.23650	.	.	ENSG00000226397	ENST00000549828	T	0.53423	0.62	4.85	0.853	0.19001	.	.	.	.	.	T	0.33962	0.0881	N	0.08118	0	0.09310	N	0.999993	P	0.49783	0.928	P	0.51016	0.656	T	0.17837	-1.0356	9	0.87932	D	0	.	6.4566	0.21934	0.189:0.1596:0.6514:0.0	.	43	C9JDV5	CL097_HUMAN	K	43	ENSP00000447146:T43K	ENSP00000447146:T43K	T	-	2	0	C12orf77	25040416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.521000	0.22893	0.280000	0.22209	-0.907000	0.02831	ACG		PASS	0.403	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		57	91	57	91	---	---	---	---
KANSL2	54934	broad.mit.edu	37	12	49072821	49072821	+	Silent	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:49072821T>A	ENST00000420613.2	-	4	590	c.543A>T	c.(541-543)ctA>ctT	p.L181L	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Silent_p.L181L|KANSL2_ENST00000550347.1_Silent_p.L364L	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	181					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)|nucleoplasm (GO:0005654)		p.L181L(2)									CAACTTACTTTAGGGGATCTT	0.433																																						uc001rrx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(541-543)CTA>CTT		hypothetical protein LOC54934							97.0	95.0	95.0					12																	49072821		1982	4169	6151	SO:0001819	synonymous_variant	54934							g.chr12:49072821T>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.543A>T	12.37:g.49072821T>A						C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Silent_p.L364L|C12orf41_uc001rry.2_Intron	p.L181L	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			4	618	-			181					Q8N3B5|Q96CV0|Q9NX51	Silent	SNP	ENST00000420613.2	37	c.543A>T	CCDS44869.1																																																																																				PASS	0.433	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		111	50	111	50	---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50388061	50388061	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:50388061C>G	ENST00000427314.2	-	14	1415	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	RACGAP1_ENST00000551016.1_Missense_Mutation_p.E398Q|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E398Q|RACGAP1_ENST00000454520.2_Missense_Mutation_p.E398Q|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E398Q|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E398Q	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.E398Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGGAATTTCTCTTTCAGCTCT	0.393																																						uc001rvt.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1192-1194)GAG>CAG		Rac GTPase activating protein 1							117.0	122.0	120.0					12																	50388061		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50388061C>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1192G>C	12.37:g.50388061C>G	ENSP00000404190:p.Glu398Gln					RACGAP1_uc009zlm.1_Missense_Mutation_p.E398Q|RACGAP1_uc001rvs.2_Missense_Mutation_p.E398Q|RACGAP1_uc001rvu.2_Missense_Mutation_p.E398Q	p.E398Q	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			14	1502	-			398			Rho-GAP.			Missense_Mutation	SNP	ENST00000427314.2	37	c.1192G>C	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757658	0.89843	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.35	5.35	0.76521	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.35414	1.06	0.80722	D	1	P	0.47191	0.891	P	0.49252	0.604	T	0.01182	-1.1426	10	0.02654	T	1	-19.6847	19.0648	0.93106	0.0:1.0:0.0:0.0	.	398	Q9H0H5	RGAP1_HUMAN	Q	398;398;398;398;398;398;134	ENSP00000404190:E398Q;ENSP00000309871:E398Q;ENSP00000413241:E398Q;ENSP00000404808:E398Q;ENSP00000449374:E398Q;ENSP00000449370:E398Q;ENSP00000449565:E134Q	ENSP00000309871:E398Q	E	-	1	0	RACGAP1	48674328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.489000	0.83994	0.555000	0.69702	GAG		PASS	0.393	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		119	154	119	154	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53004486	53004486	+	Missense_Mutation	SNP	C	C	A	rs115844388		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:53004486C>A	ENST00000305748.3	-	7	1278	c.1244G>T	c.(1243-1245)cGc>cTc	p.R415L	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	415	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R415L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGTACTCGCGCAGCATCCG	0.647																																						uc001sas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1243-1245)CGC>CTC		keratin 73							111.0	89.0	97.0					12																	53004486		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53004486C>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1244G>T	12.37:g.53004486C>A	ENSP00000307014:p.Arg415Leu						p.R415L	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1279	-			415			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1244G>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064277	0.55432	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.89681	-2.55;-2.55	5.62	3.8	0.43715	Filament (1);	0.122527	0.34291	N	0.004091	D	0.91794	0.7404	H	0.94886	3.595	0.32420	N	0.549498	B	0.15930	0.015	B	0.27076	0.076	D	0.91430	0.5165	10	0.87932	D	0	.	10.6803	0.45811	0.0:0.7426:0.0:0.2574	.	415	Q86Y46	K2C73_HUMAN	L	415;160	ENSP00000307014:R415L;ENSP00000449081:R160L	ENSP00000307014:R415L	R	-	2	0	KRT73	51290753	0.019000	0.18553	0.267000	0.24556	0.971000	0.66376	2.209000	0.42806	0.869000	0.35703	0.561000	0.74099	CGC		PASS	0.647	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		55	81	55	81	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53045515	53045515	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:53045515G>T	ENST00000309680.3	-	1	433	c.412C>A	c.(412-414)Cct>Act	p.P138T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	138	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.P138T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AAGCCACCAGGACCCCCTAAa	0.602																																						uc001sat.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(412-414)CCT>ACT		keratin 2							69.0	70.0	70.0					12																	53045515		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045515G>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.412C>A	12.37:g.53045515G>T	ENSP00000310861:p.Pro138Thr						p.P138T	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	445	-			138			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.412C>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277851	0.23307	.	.	ENSG00000172867	ENST00000309680	T	0.75050	-0.9	5.17	4.28	0.50868	.	.	.	.	.	T	0.81955	0.4932	M	0.73598	2.24	0.29834	N	0.829808	D	0.69078	0.997	P	0.60789	0.879	T	0.76705	-0.2861	9	0.40728	T	0.16	.	9.5594	0.39360	0.0755:0.0:0.7831:0.1413	.	138	P35908	K22E_HUMAN	T	138	ENSP00000310861:P138T	ENSP00000310861:P138T	P	-	1	0	KRT2	51331782	0.000000	0.05858	0.997000	0.53966	0.340000	0.28889	-0.414000	0.07114	1.334000	0.45468	0.655000	0.94253	CCT		PASS	0.602	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		62	105	62	105	---	---	---	---
HOXC6	3223	broad.mit.edu	37	12	54422463	54422463	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:54422463C>A	ENST00000243108.4	+	1	322	c.158C>A	c.(157-159)cCc>cAc	p.P53H	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_5'UTR	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	53					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P53H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTCGACTCCCTTTTATTCG	0.532																																						uc001sev.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(157-159)CCC>CAC		homeobox C6 isoform 1							84.0	78.0	80.0					12																	54422463		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422463C>A		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.158C>A	12.37:g.54422463C>A	ENSP00000243108:p.Pro53His					HOXC6_uc001ses.2_5'UTR|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	p.P53H	NM_004503	NP_004494	P09630	HXC6_HUMAN			1	270	+			53					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.158C>A	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985122	0.74474	.	.	ENSG00000197757	ENST00000243108	D	0.92752	-3.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	M	0.83852	2.665	0.80722	D	1	P	0.34615	0.459	B	0.35278	0.199	D	0.92255	0.5812	10	0.49607	T	0.09	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	53	P09630	HXC6_HUMAN	H	53	ENSP00000243108:P53H	ENSP00000243108:P53H	P	+	2	0	HOXC6	52708730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.884000	0.98904	0.655000	0.94253	CCC		PASS	0.532	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			28	188	28	188	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56647572	56647572	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:56647572T>C	ENST00000267116.7	-	9	1040	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	307								p.K307E(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGAGGACTTTTCCCTTCTTTG	0.483																																						uc001skm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(919-921)AAA>GAA		ankyrin repeat domain 52							122.0	128.0	126.0					12																	56647572		1925	4136	6061	SO:0001583	missense	283373						protein binding	g.chr12:56647572T>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.919A>G	12.37:g.56647572T>C	ENSP00000267116:p.Lys307Glu						p.K307E	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			9	1009	-			307			ANK 10.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.919A>G	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055874	0.93793	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.63096	-0.02	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	N	0.11154	0.105	0.80722	D	1	P	0.43857	0.819	B	0.43445	0.42	T	0.39722	-0.9600	10	0.25751	T	0.34	.	12.3159	0.54955	0.0:0.0:0.0:1.0	.	307	Q8NB46	ANR52_HUMAN	E	307	ENSP00000267116:K307E	ENSP00000267116:K307E	K	-	1	0	ANKRD52	54933839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.672000	0.83956	2.065000	0.61736	0.533000	0.62120	AAA		PASS	0.483	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		28	135	28	135	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63954358	63954358	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:63954358T>C	ENST00000324472.4	-	22	2394	c.2211A>G	c.(2209-2211)gaA>gaG	p.E737E	DPY19L2_ENST00000413230.2_Silent_p.E184E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	737					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E737E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCCTGGCGTCTTCGAGCAGGA	0.453																																						uc001srp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2209-2211)GAA>GAG		dpy-19-like 2							93.0	80.0	85.0					12																	63954358		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63954358T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2211A>G	12.37:g.63954358T>C						DPY19L2_uc010sso.1_Silent_p.E184E	p.E737E	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	22	2392	-			737					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.2211A>G	CCDS31851.1																																																																																				PASS	0.453	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		58	74	58	74	---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64879294	64879294	+	Splice_Site	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:64879294G>C	ENST00000331710.5	+	10	1587		c.e10+1			NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1						defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CATGGCTAAGGTTAGTATTTA	0.303																																						uc001ssc.1																			2	Unknown(2)		lung(2)	central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.e10+1		TANK-binding kinase 1							59.0	58.0	58.0					12																	64879294		2201	4293	6494	SO:0001630	splice_region_variant	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta 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	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64879294G>C	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1248+1G>C	12.37:g.64879294G>C							p.K416_splice	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	10	1310	+								A8K4S4|Q8IYV3|Q9NUJ5	Splice_Site	SNP	ENST00000331710.5	37	c.1248_splice	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501208	0.64298	.	.	ENSG00000183735	ENST00000331710	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0115	0.92875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBK1	63165561	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	8.335000	0.90031	2.665000	0.90641	0.585000	0.79938	.		PASS	0.303	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	Intron	2	10	2	10	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66605326	66605326	+	Silent	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:66605326A>T	ENST00000261233.4	+	5	958	c.537A>T	c.(535-537)gtA>gtT	p.V179V	IRAK3_ENST00000457197.2_Silent_p.V118V	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.V179V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTTTTGAGGTATACAGAGTGG	0.338																																						uc001sth.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(535-537)GTA>GTT		interleukin-1 receptor-associated kinase 3							81.0	81.0	81.0					12																	66605326		2203	4299	6502	SO:0001819	synonymous_variant	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66605326A>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.537A>T	12.37:g.66605326A>T						IRAK3_uc010ssy.1_Silent_p.V118V	p.V179V	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	5	639	+			179			ATP (By similarity).|Protein kinase.			Silent	SNP	ENST00000261233.4	37	c.537A>T	CCDS8975.1																																																																																				PASS	0.338	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			52	101	52	101	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78530995	78530995	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:78530995C>G	ENST00000397909.2	+	19	4653	c.4480C>G	c.(4480-4482)Ccc>Gcc	p.P1494A	NAV3_ENST00000266692.7_Missense_Mutation_p.P1317A|NAV3_ENST00000536525.2_Missense_Mutation_p.P1494A|NAV3_ENST00000228327.6_Missense_Mutation_p.P1494A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1494	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P1494A(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTTCCCGGGCCCAGCATGAT	0.468										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4480-4482)CCC>GCC		neuron navigator 3							106.0	106.0	106.0					12																	78530995		1890	4114	6004	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78530995C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4480C>G	12.37:g.78530995C>G	ENSP00000381007:p.Pro1494Ala	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P1494A|NAV3_uc010sub.1_Missense_Mutation_p.P980A|NAV3_uc009zsf.2_Missense_Mutation_p.P325A	p.P1494A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			19	4653	+			1494			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4480C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.233505|3.233505	0.58886|0.58886	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.34072	.|1.46;1.43;1.4;1.38;2.19	5.87|5.87	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.40064	.|U	.|0.001195	T|T	0.40815|0.40815	0.1132|0.1132	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.38582	.|0.638;0.102;0.0;0.073	.|B;B;B;B	.|0.39904	.|0.313;0.054;0.001;0.048	T|T	0.38542|0.38542	-0.9656|-0.9656	5|10	.|0.56958	.|D	.|0.05	-12.5302|-12.5302	14.9851|14.9851	0.71342|0.71342	0.0:0.9318:0.0:0.0682|0.0:0.9318:0.0:0.0682	.|.	.|1494;1317;1494;1494	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	G|A	388|1494;1494;1494;1317;115;123	.|ENSP00000446132:P1494A;ENSP00000381007:P1494A;ENSP00000228327:P1494A;ENSP00000266692:P1317A;ENSP00000448303:P123A	.|ENSP00000228327:P1494A	A|P	+|+	2|1	0|0	NAV3|NAV3	77055126|77055126	0.967000|0.967000	0.33354|0.33354	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	2.249000|2.249000	0.43169|0.43169	1.501000|1.501000	0.48654|0.48654	-0.237000|-0.237000	0.12165|0.12165	GCC|CCC		PASS	0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		65	94	65	94	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81777926	81777926	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:81777926A>G	ENST00000549396.1	-	9	1020	c.860T>C	c.(859-861)aTg>aCg	p.M287T	PPFIA2_ENST00000333447.7_Missense_Mutation_p.M269T|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.M287T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M188T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M287T|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M213T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M269T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M134T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M287T	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	287	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.M287T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACGTTCTTTCATCTGGGCCAT	0.418																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(859-861)ATG>ACG		PTPRF interacting protein alpha 2							114.0	110.0	111.0					12																	81777926		1874	4108	5982	SO:0001583	missense	8499							g.chr12:81777926A>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.860T>C	12.37:g.81777926A>G	ENSP00000450337:p.Met287Thr					PPFIA2_uc010sue.1_Missense_Mutation_p.M187T|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.M287T	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			9	1021	-			213					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.860T>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.04|13.04	2.118668|2.118668	0.37436|0.37436	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.34667|.	1.35;2.33;2.33;2.33;1.35;1.35;1.35|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61937|.	0.2387|.	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;P|.	0.53462|.	0.96;0.717|.	D;P|.	0.64144|.	0.922;0.692|.	T|.	0.58549|.	-0.7617|.	10|.	0.02654|.	T|.	1|.	-21.3737|-21.3737	16.0659|16.0659	0.80870|0.80870	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	187;287|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	T|R	287;269;213;298;269;287;188;287|105	ENSP00000450337:M287T;ENSP00000450298:M269T;ENSP00000385093:M213T;ENSP00000327416:M269T;ENSP00000449338:M287T;ENSP00000388373:M188T;ENSP00000447868:M287T|.	ENSP00000327416:M269T|.	M|X	-|-	2|1	0|0	PPFIA2|PPFIA2	80302057|80302057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.127000|6.127000	0.71642|0.71642	2.196000|2.196000	0.70406|0.70406	0.455000|0.455000	0.32223|0.32223	ATG|TGA		PASS	0.418	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			12	48	12	48	---	---	---	---
NR2C1	7181	broad.mit.edu	37	12	95416028	95416028	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:95416028G>C	ENST00000333003.5	-	14	2119	c.1789C>G	c.(1789-1791)Caa>Gaa	p.Q597E		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	597	Required for interaction with NRIP1. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q597E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CCAATTATTTGAGAGTTATAA	0.368																																						uc001tdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1789-1791)CAA>GAA		nuclear receptor subfamily 2, group C, member 1							96.0	100.0	99.0					12																	95416028		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95416028G>C	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1789C>G	12.37:g.95416028G>C	ENSP00000333275:p.Gln597Glu						p.Q597E	NM_003297	NP_003288	P13056	NR2C1_HUMAN			14	2045	-			597			Required for interaction with NRIP1 (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1789C>G	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564141	0.86335	.	.	ENSG00000120798	ENST00000333003	D	0.92348	-3.02	5.89	5.89	0.94794	.	0.376133	0.31233	N	0.008014	D	0.94788	0.8317	L	0.54323	1.7	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	D	0.92826	0.6276	10	0.32370	T	0.25	.	20.3009	0.98609	0.0:0.0:1.0:0.0	.	597	P13056	NR2C1_HUMAN	E	597	ENSP00000333275:Q597E	ENSP00000333275:Q597E	Q	-	1	0	NR2C1	93940159	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.449000	0.97603	2.805000	0.96524	0.650000	0.86243	CAA		PASS	0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		34	210	34	210	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105451930	105451930	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:105451930G>T	ENST00000258494.9	-	10	1348	c.1208C>A	c.(1207-1209)aCc>aAc	p.T403N	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.T403N	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	403	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.T403N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTCAAACTTGGTGGCCATATA	0.428																																						uc001tlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1207-1209)ACC>AAC		aldehyde dehydrogenase 1 family, member L2							159.0	139.0	146.0					12																	105451930		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105451930G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1208C>A	12.37:g.105451930G>T	ENSP00000258494:p.Thr403Asn					ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.T403N	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			10	1335	-			403			Acyl carrier.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1208C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878020	0.51801	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.40756	1.02;1.02	5.63	4.74	0.60224	Acyl carrier protein-like (2);Phosphopantetheine-binding (1);	0.139018	0.64402	D	0.000004	T	0.52980	0.1768	M	0.67397	2.05	0.80722	D	1	P	0.40731	0.728	P	0.47603	0.551	T	0.55186	-0.8180	10	0.46703	T	0.11	.	16.8065	0.85707	0.0:0.1285:0.8715:0.0	.	403	Q3SY69	AL1L2_HUMAN	N	403	ENSP00000258494:T403N;ENSP00000389608:T403N	ENSP00000258494:T403N	T	-	2	0	ALDH1L2	103976060	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	6.557000	0.73937	1.353000	0.45828	0.650000	0.86243	ACC		PASS	0.428	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		97	174	97	174	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617130	119617130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:119617130C>T	ENST00000281938.2	+	1	684	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	RP11-64B16.4_ENST00000535921.1_RNA|RP11-64B16.3_ENST00000538405.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	5					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.Q5*(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGACGGTCAGATGCCCTT	0.612																																						uc001txb.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(13-15)CAG>TAG		heat shock 22kDa protein 8							51.0	63.0	59.0					12																	119617130		2203	4300	6503	SO:0001587	stop_gained	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617130C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.13C>T	12.37:g.119617130C>T	ENSP00000281938:p.Gln5*					HSPB8_uc001txc.2_Nonsense_Mutation_p.Q5*	p.Q5*	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	536	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		5					B2R6A6|Q6FIH3|Q9UKS3	Nonsense_Mutation	SNP	ENST00000281938.2	37	c.13C>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	43	10.026342	0.99320	.	.	ENSG00000152137	ENST00000281938	.	.	.	4.42	4.42	0.53409	.	0.386281	0.26646	N	0.023226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2157	0.86943	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	.	Q	+	1	0	HSPB8	118101513	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	5.405000	0.66351	2.294000	0.77228	0.563000	0.77884	CAG		PASS	0.612	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		47	326	47	326	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617283	119617283	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:119617283C>T	ENST00000281938.2	+	1	837	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	RP11-64B16.4_ENST00000535921.1_RNA|RP11-64B16.3_ENST00000538405.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	56					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.L56F(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCCTCGTCTCTCCTCCGC	0.692																																						uc001txb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(166-168)CTC>TTC		heat shock 22kDa protein 8							73.0	79.0	77.0					12																	119617283		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617283C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.166C>T	12.37:g.119617283C>T	ENSP00000281938:p.Leu56Phe					HSPB8_uc001txc.2_Missense_Mutation_p.L56F	p.L56F	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	689	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		56					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.166C>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263960	0.23136	.	.	ENSG00000152137	ENST00000281938	D	0.87809	-2.3	4.42	-0.0844	0.13690	.	0.226096	0.37219	N	0.002191	T	0.72028	0.3410	N	0.16790	0.44	0.40608	D	0.98164	B	0.11235	0.004	B	0.26310	0.068	T	0.50923	-0.8770	9	.	.	.	.	4.9984	0.14251	0.1399:0.5889:0.0:0.2712	.	56	Q9UJY1	HSPB8_HUMAN	F	56	ENSP00000281938:L56F	.	L	+	1	0	HSPB8	118101666	0.919000	0.31177	0.884000	0.34674	0.401000	0.30781	2.638000	0.46562	-0.227000	0.09884	-0.251000	0.11542	CTC		PASS	0.692	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		79	381	79	381	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617290	119617290	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:119617290C>T	ENST00000281938.2	+	1	844	c.173C>T	c.(172-174)tCc>tTc	p.S58F	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	58					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.S58F(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCTCTCCTCCGCCTGGCCA	0.692																																						uc001txb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(172-174)TCC>TTC		heat shock 22kDa protein 8							68.0	74.0	72.0					12																	119617290		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617290C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.173C>T	12.37:g.119617290C>T	ENSP00000281938:p.Ser58Phe					HSPB8_uc001txc.2_Missense_Mutation_p.S58F	p.S58F	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	696	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		58					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.173C>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756056	0.49362	.	.	ENSG00000152137	ENST00000281938	D	0.87966	-2.32	4.12	3.21	0.36854	.	0.254057	0.40554	N	0.001067	D	0.86058	0.5842	L	0.34521	1.04	0.35865	D	0.827815	B	0.26258	0.145	P	0.45037	0.467	D	0.83753	0.0210	9	.	.	.	.	14.09	0.64982	0.0:0.848:0.152:0.0	.	58	Q9UJY1	HSPB8_HUMAN	F	58	ENSP00000281938:S58F	.	S	+	2	0	HSPB8	118101673	0.999000	0.42202	0.513000	0.27749	0.252000	0.25951	4.365000	0.59486	1.064000	0.40671	-0.302000	0.09304	TCC		PASS	0.692	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		70	347	70	347	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121432067	121432067	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:121432067C>A	ENST00000257555.6	+	4	1040	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	HNF1A_ENST00000543427.1_Missense_Mutation_p.R155S|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.R272S|HNF1A_ENST00000402929.1_Missense_Mutation_p.R272S|HNF1A_ENST00000400024.2_Missense_Mutation_p.R272S|HNF1A_ENST00000541395.1_Missense_Mutation_p.R272S			P20823	HNF1A_HUMAN	HNF1 homeobox A	272	Interaction with DNA.		R -> C (in NIDDM). {ECO:0000269|PubMed:10333057}.|R -> H (in IDDM20 and MODY3). {ECO:0000269|PubMed:9032114, ECO:0000269|PubMed:9166684, ECO:0000269|PubMed:9313763}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R272S(2)|p.K273fs*41(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCAACCGGCGCAAAGAAGA	0.672									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2																			3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.K273fs*41(1)|p.R272H(1)|p.R272S(1)	liver(2)|lung(1)	liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	GRCh37	CM082859|CM991168	HNF1A	M		c.(814-816)CGC>AGC		hepatic nuclear factor-1-alpha							39.0	37.0	38.0					12																	121432067		2203	4300	6503	SO:0001583	missense	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432067C>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.814C>A	12.37:g.121432067C>A	ENSP00000257555:p.Arg272Ser					HNF1A_uc001tze.1_Missense_Mutation_p.R272S|HNF1A_uc001tzf.2_Missense_Mutation_p.R272S|HNF1A_uc010szn.1_Missense_Mutation_p.R272S	p.R272S	NM_000545	NP_000536	P20823	HNF1A_HUMAN			4	837	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		272		R -> C (in NIDDM).|R -> H (in IDDM20 and MODY3).	Homeobox; HNF1-type.|Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.814C>A	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021945	0.75275	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72	4.84	3.88	0.44766	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000006	D	0.99202	0.9723	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D	0.76494	0.995;0.999;0.993;0.981	D;D;P;P	0.70935	0.922;0.971;0.887;0.862	D	0.98611	1.0663	10	0.87932	D	0	-31.7942	12.0272	0.53377	0.2522:0.7478:0.0:0.0	.	272;272;272;272	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	S	272;272;272;272;155;272;272;272;272;272	ENSP00000257555:R272S;ENSP00000439721:R155S;ENSP00000443112:R272S;ENSP00000438804:R272S	ENSP00000257555:R272S	R	+	1	0	HNF1A	119916450	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.248000	0.43160	2.245000	0.73994	0.409000	0.27619	CGC		PASS	0.672	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		14	25	14	25	---	---	---	---
ZCCHC8	55596	broad.mit.edu	37	12	122958565	122958565	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:122958565C>T	ENST00000336229.4	-	14	1733	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E297K|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.E297K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E146K	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	535					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E535K(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTACGCTCTCGGCCTGCTCA	0.547																																						uc001ucn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1603-1605)GAG>AAG		zinc finger, CCHC domain containing 8							150.0	158.0	155.0					12																	122958565		2168	4269	6437	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958565C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1603G>A	12.37:g.122958565C>T	ENSP00000337313:p.Glu535Lys					ZCCHC8_uc001ucl.2_Missense_Mutation_p.E146K|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E297K|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E297K|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E297K	p.E535K	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1734	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		535			Potential.		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1603G>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.247503	0.80024	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.51574	0.75;0.75;0.73;0.7	5.76	4.88	0.63580	.	0.289259	0.42682	D	0.000662	T	0.47078	0.1426	M	0.64997	1.995	0.50467	D	0.999879	B	0.19445	0.036	B	0.12156	0.007	T	0.43556	-0.9384	10	0.49607	T	0.09	-8.8032	14.7069	0.69198	0.0:0.9305:0.0:0.0695	.	535	Q6NZY4	ZCHC8_HUMAN	K	297;297;535;146;146	ENSP00000441423:E297K;ENSP00000438993:E297K;ENSP00000337313:E535K;ENSP00000440028:E146K	ENSP00000337313:E535K	E	-	1	0	ZCCHC8	121524518	1.000000	0.71417	0.693000	0.30195	0.099000	0.18886	6.806000	0.75195	1.450000	0.47717	0.650000	0.86243	GAG		PASS	0.547	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		166	295	166	295	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123800192	123800192	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:123800192G>C	ENST00000602398.1	-	22	3078	c.2951C>G	c.(2950-2952)tCa>tGa	p.S984*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.S983*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.S984*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.S983*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	984					regulation of transcription, DNA-templated (GO:0006355)			p.S983*(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AACTTGGTTTGATCTATGAGT	0.373																																						uc010tap.1																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(2950-2952)TCA>TGA		sno, strawberry notch homolog 1							143.0	133.0	136.0					12																	123800192		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123800192G>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2951C>G	12.37:g.123800192G>C	ENSP00000473665:p.Ser984*					SBNO1_uc010tao.1_Nonsense_Mutation_p.S983*|SBNO1_uc010taq.1_Translation_Start_Site|SBNO1_uc001ues.1_5'Flank	p.S984*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	21	2951	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		984					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.2951C>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	41	8.847856	0.98976	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	5.89	4.99	0.66335	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.0423	15.4503	0.75268	0.0674:0.0:0.9325:0.0	.	.	.	.	X	984;983	.	ENSP00000267176:S983X	S	-	2	0	SBNO1	122366145	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.013000	0.88655	2.783000	0.95769	0.655000	0.94253	TCA		PASS	0.373	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		31	147	31	147	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130015694	130015694	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:130015694A>G	ENST00000422113.2	-	3	1351	c.1025T>C	c.(1024-1026)aTt>aCt	p.I342T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	342					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I342T(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)		GACATCCCAAATGGAAGGGCT	0.532																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1024-1026)ATT>ACT		transmembrane protein 132D precursor							116.0	109.0	111.0					12																	130015694		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130015694A>G	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.1025T>C	12.37:g.130015694A>G	ENSP00000408581:p.Ile342Thr						p.I342T	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	3	1353	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	342			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1025T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	5.883	0.347092	0.11126	.	.	ENSG00000151952	ENST00000422113	T	0.13196	2.61	5.09	3.94	0.45596	.	0.762876	0.10906	N	0.621143	T	0.09862	0.0242	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.38757	-0.9646	9	.	.	.	-2.4784	7.6845	0.28532	0.8351:0.0:0.1649:0.0	.	342	Q14C87	T132D_HUMAN	T	342	ENSP00000408581:I342T	.	I	-	2	0	TMEM132D	128581647	0.001000	0.12720	0.004000	0.12327	0.619000	0.37552	1.191000	0.32138	0.794000	0.33899	0.533000	0.62120	ATT		PASS	0.532	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		33	84	33	84	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130929768	130929768	+	Missense_Mutation	SNP	G	G	T	rs370238553		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr12:130929768G>T	ENST00000261655.4	-	7	740	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P101T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P101T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	193	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P193T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGTGAGGGGCAGCTCAGCT	0.547																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(577-579)CCC>ACC		RIM-binding protein 2							157.0	135.0	142.0					12																	130929768		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130929768G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.577C>A	12.37:g.130929768G>T	ENSP00000261655:p.Pro193Thr					RIMBP2_uc001uim.2_Missense_Mutation_p.P101T|RIMBP2_uc001uin.1_5'Flank	p.P193T	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	741	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	193			SH3 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.577C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921963	0.73213	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.47869	0.83;0.83;0.83	3.38	3.38	0.38709	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	N	0.21373	0.66	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59467	-0.7449	10	0.52906	T	0.07	-22.5219	15.1133	0.72375	0.0:0.0:1.0:0.0	.	101;193	O15034-2;O15034	.;RIMB2_HUMAN	T	193;101;101;101	ENSP00000261655:P193T;ENSP00000440347:P101T;ENSP00000439159:P101T	ENSP00000261655:P193T	P	-	1	0	RIMBP2	129495721	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.709000	0.98729	1.574000	0.49760	0.561000	0.74099	CCC		PASS	0.547	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		91	133	91	133	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23929364	23929365	+	Missense_Mutation	DNP	GA	GA	AT	rs149951538		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:23929364_23929365GA>AT	ENST00000382292.3	-	7	1659_1660	c.1386_1387TC>AT	c.(1384-1389)gtTCac>gtATac	p.H463Y	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.H463Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	463					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.H316Y(2)|p.H463Y(2)|p.V462V(1)|p.V315V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACTGATGTGAACTGGGAGGC	0.485																																						uc001uon.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1387-1389)CAC>TAC|c.(1384-1386)GTT>GTA		sacsin																																				SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929364G>A|g.chr13:23929365A>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1386_1387delinsAT	13.37:g.23929364_23929365delinsAT	ENSP00000371729:p.His463Tyr					SACS_uc001uoo.2_Missense_Mutation_p.H316Y|SACS_uc001uop.1_Missense_Mutation_p.H250Y|SACS_uc001uoq.1_Missense_Mutation_p.H316Y|SACS_uc001uoo.2_Silent_p.V315V|SACS_uc001uop.1_Silent_p.V249V|SACS_uc001uoq.1_Silent_p.V315V	p.H463Y|p.V462V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1976|1975	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	463|462					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation|Silent	SNP	ENST00000382292.3	37	c.1387C>T|c.1386T>A	CCDS9300.2																																																																																				PASS	0.485	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		61|60	26|25	60	25	---	---	---	---
MTIF3	219402	broad.mit.edu	37	13	28011400	28011400	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:28011400C>G	ENST00000381116.1	-	6	705	c.471G>C	c.(469-471)ctG>ctC	p.L157L	MTIF3_ENST00000431572.2_Silent_p.L157L|MTIF3_ENST00000405591.2_Silent_p.L157L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.L157L			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	157					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L157L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GTTCCTTTCTCAGGGTTGGTC	0.413																																						uc001urh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(469-471)CTG>CTC		mitochondrial translational initiation factor 3							88.0	80.0	83.0					13																	28011400		2203	4300	6503	SO:0001819	synonymous_variant	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28011400C>G	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.471G>C	13.37:g.28011400C>G						MTIF3_uc001uri.2_Silent_p.L157L|MTIF3_uc001urj.2_Silent_p.L157L|MTIF3_uc001urk.2_Silent_p.L157L	p.L157L	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	2	1695	-		Lung SC(185;0.0161)	157					Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	c.471G>C	CCDS9322.1																																																																																				PASS	0.413	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		8	58	8	58	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28623591	28623591	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:28623591T>C	ENST00000241453.7	-	8	1047	c.966A>G	c.(964-966)agA>agG	p.R322R	FLT3_ENST00000380982.4_Silent_p.R322R|FLT3_ENST00000537084.1_Silent_p.R322R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	322	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R322R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGTGTCGTTTCTTGCCACTG	0.398			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(964-966)AGA>AGG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						213.0	189.0	197.0					13																	28623591		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28623591T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.966A>G	13.37:g.28623591T>C						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R322R	p.R322R	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	8	1048	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	322			Extracellular (Potential).|Ig-like C2-type.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.966A>G	CCDS31953.1																																																																																				PASS	0.398	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			30	295	30	295	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42876298	42876298	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:42876298C>G	ENST00000025301.2	+	8	3591	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1139					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.S1139C(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)		ACACCACCTTCTACTCCACAC	0.398																																						uc001uys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3415-3417)TCT>TGT		A-kinase anchor protein 11							100.0	107.0	105.0					13																	42876298		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876298C>G	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.3416C>G	13.37:g.42876298C>G	ENSP00000025301:p.Ser1139Cys						p.S1139C	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	3591	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1139					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3416C>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724679	0.68959	.	.	ENSG00000023516	ENST00000025301	T	0.20463	2.07	5.5	5.5	0.81552	.	0.071819	0.56097	D	0.000025	T	0.49304	0.1549	M	0.69823	2.125	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	T	0.47787	-0.9090	10	0.87932	D	0	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	1139	Q9UKA4	AKA11_HUMAN	C	1139	ENSP00000025301:S1139C	ENSP00000025301:S1139C	S	+	2	0	AKAP11	41774298	1.000000	0.71417	0.680000	0.29994	0.972000	0.66771	7.152000	0.77419	2.744000	0.94065	0.655000	0.94253	TCT		PASS	0.398	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		24	183	24	183	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46632487	46632487	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:46632487C>T	ENST00000181383.4	-	9	842	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E239K|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	276					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E276K(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAGTAGGTTTCCGAGCATGAG	0.418																																						uc001vaw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(826-828)GAA>AAA		plasma carboxypeptidase B2 isoform a							167.0	148.0	155.0					13																	46632487		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632487C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.826G>A	13.37:g.46632487C>T	ENSP00000181383:p.Glu276Lys					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.E239K	p.E276K	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	893	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	276					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.826G>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947797	0.53186	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.12255	2.7;2.7	5.86	5.01	0.66863	Peptidase M14, carboxypeptidase A (2);	0.143979	0.64402	D	0.000007	T	0.50343	0.1610	H	0.95884	3.735	0.44515	D	0.997464	D;D	0.76494	0.996;0.999	D;D	0.65773	0.909;0.938	T	0.69239	-0.5197	10	0.72032	D	0.01	.	16.2053	0.82122	0.0:0.8669:0.133:0.0	.	239;276	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	K	276;239	ENSP00000181383:E276K;ENSP00000400714:E239K	ENSP00000181383:E276K	E	-	1	0	CPB2	45530488	0.989000	0.36119	0.237000	0.24090	0.090000	0.18270	2.821000	0.48065	1.476000	0.48215	-0.165000	0.13383	GAA		PASS	0.418	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		174	97	174	97	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77589613	77589613	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:77589613G>A	ENST00000355619.5	-	4	898	c.574C>T	c.(574-576)Cta>Tta	p.L192L	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	192					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L192L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTGGCCACTAGTACTTTGAGA	0.408																																						uc001vkd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(574-576)CTA>TTA		F-box and leucine-rich repeat protein 3							149.0	132.0	137.0					13																	77589613		2203	4300	6503	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77589613G>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.574C>T	13.37:g.77589613G>A							p.L192L	NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	4	945	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	192			LRR 2.		B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.574C>T	CCDS9457.1																																																																																				PASS	0.408	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			29	160	29	160	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86369028	86369028	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:86369028G>T	ENST00000400286.2	-	2	2214	c.1616C>A	c.(1615-1617)aCa>aAa	p.T539K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	539	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.T539K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGTCACTGTGTTCTTGCT	0.453																																						uc001vll.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1615-1617)ACA>AAA		slit and trk like 6 precursor							89.0	89.0	89.0					13																	86369028		1983	4156	6139	SO:0001583	missense	84189					integral to membrane		g.chr13:86369028G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1616C>A	13.37:g.86369028G>T	ENSP00000383143:p.Thr539Lys					SLITRK6_uc010afe.1_Intron	p.T539K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2075	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		539			LRRCT 2.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1616C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495645	0.26774	.	.	ENSG00000184564	ENST00000400286	T	0.02395	4.31	5.75	2.67	0.31697	Cysteine-rich flanking region, C-terminal (1);	0.156294	0.41001	U	0.000974	T	0.03178	0.0093	L	0.41356	1.27	0.35772	D	0.820977	B	0.27559	0.181	B	0.26416	0.069	T	0.37957	-0.9683	10	0.72032	D	0.01	-0.6232	9.4353	0.38635	0.3251:0.0:0.6749:0.0	.	539	Q9H5Y7	SLIK6_HUMAN	K	539	ENSP00000383143:T539K	ENSP00000383143:T539K	T	-	2	0	SLITRK6	85267029	0.967000	0.33354	0.995000	0.50966	0.990000	0.78478	1.681000	0.37618	0.790000	0.33803	0.655000	0.94253	ACA		PASS	0.453	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		99	39	99	39	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92345699	92345699	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:92345699G>T	ENST00000377067.3	+	3	956	c.584G>T	c.(583-585)cGg>cTg	p.R195L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	195					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R195L(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAATGCATCCGGATGGCTCGC	0.493																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(583-585)CGG>CTG		glypican 5 precursor							85.0	85.0	85.0					13																	92345699		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345699G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.584G>T	13.37:g.92345699G>T	ENSP00000366267:p.Arg195Leu						p.R195L	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	950	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	195					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.584G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756189	0.69648	.	.	ENSG00000179399	ENST00000377067	T	0.51574	0.7	5.07	4.22	0.49857	.	0.121241	0.56097	D	0.000038	T	0.63367	0.2505	M	0.80616	2.505	0.45427	D	0.998407	P	0.47302	0.893	P	0.58970	0.849	T	0.67233	-0.5722	10	0.87932	D	0	.	8.6135	0.33817	0.1654:0.0:0.8346:0.0	.	195	P78333	GPC5_HUMAN	L	195	ENSP00000366267:R195L	ENSP00000366267:R195L	R	+	2	0	GPC5	91143700	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	4.160000	0.58164	2.351000	0.79841	0.467000	0.42956	CGG		PASS	0.493	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		26	150	26	150	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92797143	92797143	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:92797143G>A	ENST00000377067.3	+	7	1834	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	488					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G488R(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGGCAGTGGTGGAGGCATGGT	0.463																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1462-1464)GGA>AGA		glypican 5 precursor							180.0	159.0	166.0					13																	92797143		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797143G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1462G>A	13.37:g.92797143G>A	ENSP00000366267:p.Gly488Arg						p.G488R	NM_004466	NP_004457	P78333	GPC5_HUMAN			7	1828	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	488					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1462G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248129	0.59103	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.68	5.68	0.88126	.	0.233960	0.38005	N	0.001853	T	0.68659	0.3025	M	0.70595	2.14	0.40126	D	0.976661	D	0.89917	1.0	D	0.85130	0.997	T	0.70461	-0.4865	10	0.56958	D	0.05	0.011	16.9496	0.86240	0.0:0.0:1.0:0.0	.	488	P78333	GPC5_HUMAN	R	488	ENSP00000366267:G488R	ENSP00000366267:G488R	G	+	1	0	GPC5	91595144	0.807000	0.29009	0.126000	0.21872	0.489000	0.33432	4.607000	0.61133	2.677000	0.91161	0.563000	0.77884	GGA		PASS	0.463	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		25	159	25	159	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109772789	109772789	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:109772789G>T	ENST00000357550.2	+	28	3485	c.3444G>T	c.(3442-3444)caG>caT	p.Q1148H	MYO16_ENST00000356711.2_Missense_Mutation_p.Q1148H|MYO16_ENST00000457511.2_Missense_Mutation_p.Q660H	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q1148H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACAGTTGCAGAGAAAAATTA	0.353																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3442-3444)CAG>CAT		myosin heavy chain Myr 8							113.0	108.0	110.0					13																	109772789		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109772789G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3444G>T	13.37:g.109772789G>T	ENSP00000350160:p.Gln1148His					MYO16_uc010agk.1_Missense_Mutation_p.Q1170H|MYO16_uc010tjh.1_Missense_Mutation_p.Q660H	p.Q1148H	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		29	3570	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1148			IQ.			Missense_Mutation	SNP	ENST00000357550.2	37	c.3444G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	7.684	0.689547	0.14973	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95238	-3.65;-3.65;-3.65	5.38	4.52	0.55395	.	0.000000	0.38720	U	0.001588	D	0.88020	0.6325	N	0.17082	0.46	0.40800	D	0.983335	B;B	0.22414	0.069;0.041	B;B	0.23419	0.046;0.021	T	0.83015	-0.0170	9	.	.	.	.	12.2943	0.54836	0.0825:0.0:0.9175:0.0	.	660;1148	F8W883;Q9Y6X6	.;MYO16_HUMAN	H	1148;1148;660	ENSP00000349145:Q1148H;ENSP00000350160:Q1148H;ENSP00000401633:Q660H	.	Q	+	3	2	MYO16	108570790	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.111000	0.41883	1.227000	0.43598	0.650000	0.86243	CAG		PASS	0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		19	80	19	80	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113826141	113826141	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr13:113826141G>A	ENST00000375547.2	+	8	932	c.925G>A	c.(925-927)Gac>Aac	p.D309N	PROZ_ENST00000342783.4_Missense_Mutation_p.D331N	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	309	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D309N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CAATGGCACTGACCTGGGCAA	0.647																																						uc001vta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GAC>AAC		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						49.0	46.0	47.0					13																	113826141		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826141G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.925G>A	13.37:g.113826141G>A	ENSP00000364697:p.Asp309Asn					PROZ_uc010agr.1_Missense_Mutation_p.D331N	p.D309N	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	932	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	309			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.925G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	8.087	0.773682	0.16051	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92752	-3.1;-3.1	4.12	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.740145	0.12584	N	0.456164	D	0.86594	0.5970	L	0.36672	1.1	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.08055	0.003;0.001	T	0.77357	-0.2618	10	0.87932	D	0	.	9.2597	0.37605	0.0812:0.4151:0.5036:0.0	.	331;309	P22891-2;P22891	.;PROZ_HUMAN	N	309;331	ENSP00000364697:D309N;ENSP00000344458:D331N	ENSP00000344458:D331N	D	+	1	0	PROZ	112874142	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	0.256000	0.18351	0.187000	0.20147	0.306000	0.20318	GAC		PASS	0.647	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		9	89	9	89	---	---	---	---
EFS	10278	broad.mit.edu	37	14	23826697	23826697	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:23826697T>C	ENST00000216733.3	-	6	2031	c.1424A>G	c.(1423-1425)aAg>aGg	p.K475R	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.K382R|EFS_ENST00000429593.2_Missense_Mutation_p.K306R	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	475	Divergent helix-loop-helix motif.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.K475R(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CACCACCCTCTTGCTGTGGGG	0.652																																						uc001wjo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1423-1425)AAG>AGG		embryonal Fyn-associated substrate isoform 1							39.0	45.0	43.0					14																	23826697		2201	4300	6501	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826697T>C	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1424A>G	14.37:g.23826697T>C	ENSP00000216733:p.Lys475Arg					EFS_uc001wjp.2_Missense_Mutation_p.K382R|EFS_uc010tnm.1_Missense_Mutation_p.K306R	p.K475R	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2032	-	all_cancers(95;7.12e-06)		475			Divergent helix-loop-helix motif.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1424A>G	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439124	0.83885	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.54479	0.57;0.57;0.57	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	M	0.86268	2.805	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.79276	-0.1870	10	0.87932	D	0	-20.672	13.2924	0.60278	0.0:0.0:0.0:1.0	.	306;382;475	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	R	475;382;306	ENSP00000216733:K475R;ENSP00000340607:K382R;ENSP00000416684:K306R	ENSP00000216733:K475R	K	-	2	0	EFS	22896537	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	5.290000	0.65661	1.964000	0.57103	0.533000	0.62120	AAG		PASS	0.652	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			59	80	59	80	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35234367	35234367	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:35234367C>G	ENST00000382422.2	-	21	3736	c.3409G>C	c.(3409-3411)Gat>Cat	p.D1137H	BAZ1A_ENST00000360310.1_Missense_Mutation_p.D1137H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.D1105H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1137					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.D1137H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACGCTACGATCCAAGGTGGAT	0.438																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(3409-3411)GAT>CAT		bromodomain adjacent to zinc finger domain, 1A							141.0	126.0	131.0					14																	35234367		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35234367C>G	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3409G>C	14.37:g.35234367C>G	ENSP00000371859:p.Asp1137His					BAZ1A_uc001wsl.2_Missense_Mutation_p.D1105H	p.D1137H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	22	3977	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1137					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.3409G>C	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948640	0.92660	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.88277	-2.36;-2.36;-2.36	5.82	5.82	0.92795	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.051776	0.85682	D	0.000000	D	0.92799	0.7710	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.947	D	0.92999	0.6421	10	0.87932	D	0	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1105;1137	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	1105;1137;1137;789	ENSP00000351555:D1105H;ENSP00000371859:D1137H;ENSP00000353458:D1137H	ENSP00000351555:D1105H	D	-	1	0	BAZ1A	34304118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.513000	0.81739	2.760000	0.94817	0.655000	0.94253	GAT		PASS	0.438	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			56	105	56	105	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44973932	44973932	+	Silent	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:44973932T>A	ENST00000340446.4	-	1	2550	c.2259A>T	c.(2257-2259)gtA>gtT	p.V753V	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	753						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.V753V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACACATTCTCTACCAGAGCCT	0.463																																						uc001wvn.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2257-2259)GTA>GTT		fibrous sheath CABYR binding protein							62.0	67.0	65.0					14																	44973932		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44973932T>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2259A>T	14.37:g.44973932T>A							p.V753V	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2568	-			753					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.2259A>T	CCDS9679.1																																																																																				PASS	0.463	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		153	148	153	148	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47343269	47343269	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:47343269C>A	ENST00000399232.2	-	13	2729	c.2365G>T	c.(2365-2367)Gac>Tac	p.D789Y	MDGA2_ENST00000439988.3_Missense_Mutation_p.D858Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.D560Y|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.D560Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	789	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D560Y(2)|p.D858Y(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCACTACGGTCAGCATTAGGT	0.338																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2365-2367)GAC>TAC		MAM domain containing 1 isoform 1							173.0	166.0	168.0					14																	47343269		1845	4096	5941	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47343269C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2365G>T	14.37:g.47343269C>A	ENSP00000382178:p.Asp789Tyr					MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.D560Y|MDGA2_uc010ani.2_Missense_Mutation_p.D349Y	p.D789Y	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			13	2561	-			789			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2365G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.481849	0.84747	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.49305	U	0.000143	T	0.36110	0.0955	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56649	-0.7944	10	0.87932	D	0	.	17.6763	0.88232	0.0:1.0:0.0:0.0	.	560;789	F6W3S7;Q7Z553	.;MDGA2_HUMAN	Y	789;560;858;560	ENSP00000400011:D789Y;ENSP00000405456:D560Y;ENSP00000382178:D858Y;ENSP00000349925:D560Y	ENSP00000349925:D560Y	D	-	1	0	MDGA2	46413019	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.487000	0.81328	2.501000	0.84356	0.467000	0.42956	GAC		PASS	0.338	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		37	130	37	130	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57675449	57675449	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:57675449C>A	ENST00000413566.2	-	18	2364	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	EXOC5_ENST00000340918.7_Missense_Mutation_p.D604Y	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	669					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D671Y(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAAATTATCTGGGGCAACT	0.378																																						uc001xct.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2005-2007)GAT>TAT		SEC10 protein							80.0	80.0	80.0					14																	57675449		1834	4082	5916	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57675449C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.2005G>T	14.37:g.57675449C>A	ENSP00000389934:p.Asp669Tyr					EXOC5_uc001xcs.2_Missense_Mutation_p.D348Y|EXOC5_uc010trg.1_Missense_Mutation_p.D614Y|EXOC5_uc010trh.1_Missense_Mutation_p.D604Y	p.D669Y	NM_006544	NP_006535	O00471	EXOC5_HUMAN			18	2256	-			669					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.2005G>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924618	0.92319	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.48836	0.8;0.8	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.64960	-0.6284	10	0.87932	D	0	-17.4899	19.8131	0.96556	0.0:1.0:0.0:0.0	.	604;669	F8W9B8;O00471	.;EXOC5_HUMAN	Y	669;604	ENSP00000389934:D669Y;ENSP00000342100:D604Y	ENSP00000342100:D604Y	D	-	1	0	EXOC5	56745202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.682000	0.91365	0.585000	0.79938	GAT		PASS	0.378	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		71	72	71	72	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112477	59112477	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:59112477G>T	ENST00000335867.4	+	4	1160	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	DACT1_ENST00000556859.1_Missense_Mutation_p.R98I|DACT1_ENST00000541264.2_Missense_Mutation_p.R98I|DACT1_ENST00000395153.3_Missense_Mutation_p.R342I			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	379					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.R379I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTTTGTGTCAGAGCCCCGGGC	0.542																																						uc001xdw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1135-1137)AGA>ATA		dapper 1 isoform 1							58.0	63.0	61.0					14																	59112477		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112477G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1136G>T	14.37:g.59112477G>T	ENSP00000337439:p.Arg379Ile					DACT1_uc010trv.1_Missense_Mutation_p.R98I|DACT1_uc001xdx.2_Missense_Mutation_p.R342I|DACT1_uc010trw.1_Missense_Mutation_p.R98I	p.R379I	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1300	+			379					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1136G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972454	0.53614	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;D;T;T;T;T	0.83163	0.24;-1.69;0.24;-0.52;-0.52;0.24	5.46	5.46	0.80206	.	0.101589	0.64402	D	0.000013	D	0.89178	0.6641	M	0.65975	2.015	0.50632	D	0.999882	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.968	D	0.89701	0.3905	10	0.72032	D	0.01	-18.1243	12.6184	0.56590	0.0759:0.0:0.9241:0.0	.	342;379	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	I	98;98;98;342;379;98	ENSP00000451598:R98I;ENSP00000404297:R98I;ENSP00000378581:R98I;ENSP00000378582:R342I;ENSP00000337439:R379I;ENSP00000442850:R98I	ENSP00000337439:R379I	R	+	2	0	DACT1	58182230	1.000000	0.71417	0.947000	0.38551	0.451000	0.32288	4.545000	0.60698	2.577000	0.86979	0.563000	0.77884	AGA		PASS	0.542	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		88	105	88	105	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59822020	59822020	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:59822020A>G	ENST00000395125.1	+	20	2547	c.2524A>G	c.(2524-2526)Aaa>Gaa	p.K842E	DAAM1_ENST00000351081.1_Missense_Mutation_p.K842E|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.K832E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	842	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.K842E(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TAGCCTAAACAAAATTGCTGA	0.433																																						uc001xdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2524-2526)AAA>GAA		dishevelled-associated activator of							115.0	108.0	110.0					14																	59822020		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59822020A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2524A>G	14.37:g.59822020A>G	ENSP00000378557:p.Lys842Glu					DAAM1_uc001xea.1_Missense_Mutation_p.K832E|DAAM1_uc001xec.1_RNA	p.K842E	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	21	2649	+			842			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2524A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.940730	0.92526	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.70282	-0.47;-0.47;-0.47	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.044143	0.85682	D	0.000000	D	0.86744	0.6006	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.89023	0.3436	10	0.72032	D	0.01	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	832;842	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	832;842;811;842	ENSP00000354162:K832E;ENSP00000247170:K842E;ENSP00000378557:K842E	ENSP00000247170:K842E	K	+	1	0	DAAM1	58891773	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.287000	0.95975	2.343000	0.79666	0.533000	0.62120	AAA		PASS	0.433	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		27	165	27	165	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69558590	69558590	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:69558590T>C	ENST00000341516.5	-	6	827	c.680A>G	c.(679-681)tAt>tGt	p.Y227C	DCAF5_ENST00000557386.1_Missense_Mutation_p.Y226C|DCAF5_ENST00000556847.1_Missense_Mutation_p.Y145C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000389997.6_Missense_Mutation_p.Y227C|DCAF5_ENST00000554215.1_Missense_Mutation_p.Y145C	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	227					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.Y227C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GTTTCCACCATAGCGCAGGAG	0.537																																						uc001xkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(679-681)TAT>TGT		WD repeat domain 22							66.0	50.0	56.0					14																	69558590		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69558590T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.680A>G	14.37:g.69558590T>C	ENSP00000341351:p.Tyr227Cys					DCAF5_uc001xkq.2_Missense_Mutation_p.Y226C|DCAF5_uc001xkr.3_Missense_Mutation_p.Y227C	p.Y227C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			6	899	-			227					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.680A>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023553	0.75390	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.83	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	L	0.60455	1.87	0.80722	D	1	B;D;D	0.89917	0.076;1.0;1.0	B;D;D	0.85130	0.021;0.997;0.983	T	0.49615	-0.8921	10	0.66056	D	0.02	-12.3413	11.6674	0.51381	0.0:0.0691:0.0:0.9309	.	227;226;227	Q8TBB7;G3V4J7;Q96JK2	.;.;DCAF5_HUMAN	C	227;145;145;226;227;144	ENSP00000341351:Y227C;ENSP00000451551:Y145C;ENSP00000452052:Y145C;ENSP00000451845:Y226C;ENSP00000374647:Y227C;ENSP00000451394:Y144C	ENSP00000341351:Y227C	Y	-	2	0	DCAF5	68628343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.698000	0.84413	1.028000	0.39785	0.533000	0.62120	TAT		PASS	0.537	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		29	26	29	26	---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76330119	76330119	+	Missense_Mutation	SNP	T	T	C	rs374889118		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:76330119T>C	ENST00000298832.9	+	29	3641	c.3436T>C	c.(3436-3438)Tat>Cat	p.Y1146H	TTLL5_ENST00000556893.1_Missense_Mutation_p.Y697H|TTLL5_ENST00000554510.1_Missense_Mutation_p.Y655H|TTLL5_ENST00000557636.1_Missense_Mutation_p.Y1161H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1146					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.Y1146H(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGCAGGCAGCTATCAGCTTCA	0.537																																						uc001xrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3436-3438)TAT>CAT		tubulin tyrosine ligase-like family, member 5							100.0	99.0	100.0					14																	76330119		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76330119T>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3436T>C	14.37:g.76330119T>C	ENSP00000298832:p.Tyr1146His					TTLL5_uc010ask.1_Missense_Mutation_p.Y1161H|TTLL5_uc001xrz.2_Missense_Mutation_p.Y721H|TTLL5_uc001xsa.2_Missense_Mutation_p.Y220H	p.Y1146H	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	29	3641	+			1146					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3436T>C	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072246	0.76415	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27890	3.79;3.87;1.64;1.64	5.78	5.78	0.91487	.	0.353403	0.30338	N	0.009842	T	0.43656	0.1257	L	0.29908	0.895	0.38989	D	0.959117	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.997;0.999;0.996	T	0.35276	-0.9795	10	0.38643	T	0.18	.	14.9685	0.71213	0.0:0.0:0.0:1.0	.	1161;220;697;1146	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	H	220;1161;1146;697;697;655	ENSP00000450713:Y1161H;ENSP00000298832:Y1146H;ENSP00000452524:Y697H;ENSP00000451946:Y655H	ENSP00000286653:Y220H	Y	+	1	0	TTLL5	75399872	1.000000	0.71417	0.966000	0.40874	0.956000	0.61745	3.849000	0.55910	2.333000	0.79357	0.533000	0.62120	TAT		PASS	0.537	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		7	256	7	256	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76964656	76964656	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:76964656C>T	ENST00000509242.1	+	8	1255	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	ESRRB_ENST00000261532.7_Missense_Mutation_p.P386L|ESRRB_ENST00000380887.2_Missense_Mutation_p.P386L|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000556177.1_Missense_Mutation_p.P386L	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	386			P -> S (in dbSNP:rs61742642). {ECO:0000269|PubMed:18179891}.		gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P386L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATGAGGAGCCCTGGAGGACG	0.617																																						uc001xsq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1156-1158)CCC>CTC		estrogen-related receptor beta							26.0	26.0	26.0					14																	76964656		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76964656C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1157C>T	14.37:g.76964656C>T	ENSP00000422488:p.Pro386Leu					ESRRB_uc001xsr.2_Missense_Mutation_p.P386L|ESRRB_uc001xso.2_RNA	p.P386L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	7	1224	+			386					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1157C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972614	0.92919	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.81239	2.535	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.64877	0.93;0.93	D	0.98485	1.0607	10	0.66056	D	0.02	.	19.5447	0.95287	0.0:1.0:0.0:0.0	.	386;391	Q5F0P7;E7EWD9	.;.	L	391;386;386;386;386	ENSP00000424992:P391L;ENSP00000422488:P386L;ENSP00000451658:P386L;ENSP00000370270:P386L;ENSP00000261532:P386L	ENSP00000261532:P386L	P	+	2	0	ESRRB	76034409	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	7.818000	0.86416	2.611000	0.88343	0.561000	0.74099	CCC		PASS	0.617	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			32	32	32	32	---	---	---	---
VIPAS39	63894	broad.mit.edu	37	14	77919736	77919736	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:77919736C>T	ENST00000553888.1	-	3	612	c.102G>A	c.(100-102)gaG>gaA	p.E34E	VIPAS39_ENST00000557658.1_Silent_p.E34E|VIPAS39_ENST00000343765.2_Silent_p.E34E|VIPAS39_ENST00000556412.1_Silent_p.E60E|VIPAS39_ENST00000327028.4_Silent_p.E34E|VIPAS39_ENST00000448935.2_Silent_p.E34E	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	34					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.E34E(1)									CCCGCTTGGACTCCTTTAACT	0.537																																						uc001xtt.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(100-102)GAG>GAA		hypothetical protein LOC63894							168.0	167.0	167.0					14																	77919736		2203	4300	6503	SO:0001819	synonymous_variant	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77919736C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.102G>A	14.37:g.77919736C>T						VIPAR_uc001xtu.1_Silent_p.E34E|VIPAR_uc010tvj.1_Silent_p.E34E|VIPAR_uc001xtv.1_Silent_p.E34E	p.E34E	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			4	440	-			34					B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	ENST00000553888.1	37	c.102G>A	CCDS9862.1																																																																																				PASS	0.537	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		89	595	89	595	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	80164196	80164196	+	Silent	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:80164196A>G	ENST00000557594.1	+	4	1778	c.825A>G	c.(823-825)ccA>ccG	p.P275P	NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Silent_p.P305P|NRXN3_ENST00000335750.5_Silent_p.P907P|NRXN3_ENST00000554719.1_Silent_p.P907P|NRXN3_ENST00000281127.7_Silent_p.P275P	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	275					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.P305P(1)|p.P907P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCATGCCACCAGAAATGTCTA	0.468																																						uc001xun.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2719-2721)CCA>CCG		neurexin 3 isoform 1 precursor							121.0	101.0	108.0					14																	80164196		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80164196A>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.825A>G	14.37:g.80164196A>G						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.P275P|NRXN3_uc010asw.2_Silent_p.P305P|NRXN3_uc001xur.3_Silent_p.P275P	p.P907P	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	15	3212	+		Renal(4;0.00876)	1280			Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2721A>G																																																																																					PASS	0.468	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		58	118	58	118	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81259310	81259310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:81259310C>A	ENST00000555265.1	-	14	1729	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.E452*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	452						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E452*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTGCATCCTCCGCATGGCGA	0.537																																						uc001xux.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1354-1356)GAG>TAG		hypothetical protein LOC145508							165.0	143.0	150.0					14																	81259310		2203	4300	6503	SO:0001587	stop_gained	145508					centriole|spindle pole		g.chr14:81259310C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1354G>T	14.37:g.81259310C>A	ENSP00000451162:p.Glu452*					C14orf145_uc010asz.1_RNA	p.E452*	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	13	1525	-			452			Potential.		B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	c.1354G>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	41	8.985637	0.99027	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.47	5.47	0.80525	.	0.069917	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.3184	0.94226	0.0:1.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000281129:E452X	E	-	1	0	CEP128	80329063	0.996000	0.38824	0.947000	0.38551	0.744000	0.42396	3.527000	0.53517	2.562000	0.86427	0.650000	0.86243	GAG		PASS	0.537	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		94	119	94	119	---	---	---	---
STON2	85439	broad.mit.edu	37	14	81743488	81743488	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:81743488C>A	ENST00000267540.2	-	4	2367	c.2167G>T	c.(2167-2169)Gtt>Ttt	p.V723F	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.V723F	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	723	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.V723F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCACAGGGAACCTGAGTGAGG	0.552																																						uc010tvu.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)	5						c.(2167-2169)GTT>TTT		stonin 2							122.0	126.0	124.0					14																	81743488		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743488C>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2167G>T	14.37:g.81743488C>A	ENSP00000267540:p.Val723Phe					STON2_uc001xvk.1_Missense_Mutation_p.V723F|STON2_uc010tvt.1_Missense_Mutation_p.V520F	p.V723F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	2368	-			723			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2167G>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064653	0.55432	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19938	2.11;2.11	5.92	5.02	0.67125	Clathrin adaptor, mu subunit, C-terminal (3);	0.214284	0.40302	N	0.001139	T	0.44222	0.1283	M	0.63843	1.955	0.48571	D	0.999675	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.35226	-0.9797	10	0.48119	T	0.1	-18.3985	16.3662	0.83325	0.1331:0.8669:0.0:0.0	.	723;723	Q8WXE9;G3V2T7	STON2_HUMAN;.	F	723;735;723	ENSP00000450857:V723F;ENSP00000267540:V723F	ENSP00000267540:V723F	V	-	1	0	STON2	80813241	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.571000	0.53841	1.472000	0.48140	0.655000	0.94253	GTT		PASS	0.552	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		23	335	23	335	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088740	86088740	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:86088740G>T	ENST00000330753.4	+	2	1649	c.882G>T	c.(880-882)ggG>ggT	p.G294G	FLRT2_ENST00000554746.1_Silent_p.G294G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.G294G(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGACTCAAGGGGTTTTTGATA	0.443																																						uc001xvr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(880-882)GGG>GGT		fibronectin leucine rich transmembrane protein 2							172.0	180.0	177.0					14																	86088740		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088740G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.882G>T	14.37:g.86088740G>T						FLRT2_uc010atd.2_Silent_p.G294G	p.G294G	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1649	+			294			Extracellular (Potential).|LRR 10.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.882G>T	CCDS9877.1																																																																																				PASS	0.443	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			75	669	75	669	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477620	88477620	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:88477620C>A	ENST00000267549.3	+	2	987	c.429C>A	c.(427-429)acC>acA	p.T143T	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	143					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T143T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TATTGGAAACCATCTTCAATG	0.383																																						uc001xvv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)ACC>ACA		G protein-coupled receptor 65							191.0	185.0	187.0					14																	88477620		2203	4300	6503	SO:0001819	synonymous_variant	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477620C>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.429C>A	14.37:g.88477620C>A							p.T143T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	959	+			143			Helical; Name=4; (Potential).		O75819	Silent	SNP	ENST00000267549.3	37	c.429C>A	CCDS9879.1																																																																																				PASS	0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			6	538	6	538	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471638	92471638	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:92471638T>C	ENST00000267622.4	-	11	3055	c.2682A>G	c.(2680-2682)ctA>ctG	p.L894L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	894					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L894L(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCTCAGATGCTAGTTCAGTAA	0.403			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2680-2682)CTA>CTG		thyroid hormone receptor interactor 11							176.0	155.0	162.0					14																	92471638		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471638T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2682A>G	14.37:g.92471638T>C						TRIP11_uc010auf.1_Silent_p.L630L	p.L894L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3470	-			894			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.2682A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.658600	0.00779	.	.	ENSG00000100815	ENST00000554357	.	.	.	6.04	-7.41	0.01392	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45614	-0.9249	4	.	.	.	.	4.0164	0.09646	0.1374:0.458:0.1554:0.2492	.	.	.	.	G	610	.	.	S	-	1	0	TRIP11	91541391	0.007000	0.16637	0.010000	0.14722	0.016000	0.09150	-1.021000	0.03615	-0.951000	0.03654	0.460000	0.39030	AGC		PASS	0.403	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			177	117	177	117	---	---	---	---
PPP4R4	57718	broad.mit.edu	37	14	94731758	94731758	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:94731758C>G	ENST00000304338.3	+	21	2386	c.2232C>G	c.(2230-2232)ccC>ccG	p.P744P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	744					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.P744P(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAGTCTGCCCAAGAACATCC	0.353																																						uc001ycs.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(2230-2232)CCC>CCG		HEAT-like repeat-containing protein isoform 1							144.0	153.0	150.0					14																	94731758		2203	4300	6503	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94731758C>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2232C>G	14.37:g.94731758C>G							p.P744P	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			21	2386	+			744					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.2232C>G	CCDS9921.1																																																																																				PASS	0.353	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		28	222	28	222	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95786073	95786073	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:95786073G>T	ENST00000298912.4	-	1	170	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	19	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S19R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCGGATGTCGCTAATCTGCC	0.721																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)AGC>AGA		calmin							40.0	34.0	36.0					14																	95786073		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95786073G>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.57C>A	14.37:g.95786073G>T	ENSP00000298912:p.Ser19Arg						p.S19R	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	1	173	-			19			Actin-binding.|CH 1.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.57C>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.211021	0.58343	.	.	ENSG00000165959	ENST00000298912	D	0.93247	-3.19	2.13	2.13	0.27403	.	.	.	.	.	D	0.89037	0.6601	L	0.43923	1.385	0.80722	D	1	D	0.54397	0.966	P	0.45946	0.498	D	0.86491	0.1797	9	0.72032	D	0.01	.	3.5374	0.07799	0.1643:0.27:0.5657:0.0	.	19	Q96JQ2	CLMN_HUMAN	R	19	ENSP00000298912:S19R	ENSP00000298912:S19R	S	-	3	2	CLMN	94855826	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.320000	0.59203	1.192000	0.43071	0.290000	0.19541	AGC		PASS	0.721	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			8	92	8	92	---	---	---	---
MIR493	574450	broad.mit.edu	37	14	101335467	101335467	+	RNA	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:101335467G>T	ENST00000385254.1	+	0	71					NR_030172.1				microRNA 493																		ggtctactgtgtgccaggccc	0.592																																						hsa-mir-493|MI0003132																			0					0															84.0	79.0	81.0					14																	101335467		1568	3582	5150			574450							g.chr14:101335467G>T			14q32.2	2011-09-12		2008-12-18	ENSG00000207989	ENSG00000207989		"""ncRNAs / Micro RNAs"""	32082	non-coding RNA	RNA, micro				MIRN493			Standard	NR_030172		Approved	hsa-mir-493	uc021sca.1				14.37:g.101335467G>T																+									RNA	SNP	ENST00000385254.1	37	c.71G>T																																																																																					PASS	0.592	MIR493-201	KNOWN	basic	miRNA	miRNA		NR_030172		27	226	27	226	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104206296	104206296	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr14:104206296G>A	ENST00000202556.9	-	12	2739	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	PPP1R13B_ENST00000423488.2_Silent_p.D238D|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	819	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D819D(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTGTTATTGTCCTCTGCCG	0.602																																						uc001yof.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2455-2457)GAC>GAT		apoptosis-stimulating protein of p53, 1							40.0	47.0	45.0					14																	104206296		2065	4202	6267	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206296G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2457C>T	14.37:g.104206296G>A						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.D686D	p.D819D	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2740	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	819			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2457C>T	CCDS41997.1																																																																																				PASS	0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		9	138	9	138	---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31776859	31776859	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:31776859C>A	ENST00000307050.4	-	11	1511	c.1419G>T	c.(1417-1419)tcG>tcT	p.S473S	OTUD7A_ENST00000382902.1_Silent_p.S480S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	473					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S473S(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCGAGTCCAGCGAGTCGGCCA	0.632																																						uc001zfq.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	pancreas(1)|skin(1)	2						c.(1417-1419)TCG>TCT		OTU domain containing 7A							55.0	39.0	45.0					15																	31776859		2188	4294	6482	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776859C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1419G>T	15.37:g.31776859C>A						OTUD7A_uc001zfr.2_Silent_p.S480S	p.S473S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1512	-		all_lung(180;1.6e-09)	473					Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.1419G>T	CCDS10026.1																																																																																				PASS	0.632	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	16	3	16	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33954961	33954961	+	Silent	SNP	C	C	A	rs371562140		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:33954961C>A	ENST00000389232.4	+	35	5300	c.5230C>A	c.(5230-5232)Cgg>Agg	p.R1744R	RYR3_ENST00000415757.3_Silent_p.R1744R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1744	4 X approximate repeats.				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.R1744R(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)		TGATGATGTTCGGCAGATCCT	0.552																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5230-5232)CGG>AGG		ryanodine receptor 3							131.0	139.0	136.0					15																	33954961		2131	4251	6382	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954961C>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.5230C>A	15.37:g.33954961C>A						RYR3_uc010bar.2_Silent_p.R1744R	p.R1744R	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)	35	5300	+		all_lung(180;7.18e-09)	1744			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5230C>A	CCDS45210.1																																																																																				PASS	0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	170	4	170	---	---	---	---
PDIA3	2923	broad.mit.edu	37	15	44062447	44062448	+	Splice_Site	DNP	GC	GC	TA			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:44062447_44062448GC>TA	ENST00000300289.5	+	11	1414_1415	c.1266_1267GC>TA	c.(1264-1269)aaGCtc>aaTAtc	p.422_423KL>NI	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_Splice_Site_p.402_403KL>NI	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	422	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.?(2)|p.L423I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTATTAACAGCTCAGCAAAGA	0.376																																						uc001zsu.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(1)|skin(1)	2						c.e11-1|c.(1267-1269)CTC>ATC		protein disulfide-isomerase A3 precursor																																				SO:0001630	splice_region_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44062447G>T|g.chr15:44062448C>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	Exception_encountered	15.37:g.44062447_44062448delinsTA						PDIA3_uc010bdp.2_Splice_Site_p.L403_splice|PDIA3_uc010ued.1_Splice_Site_p.L197_splice|PDIA3_uc010bdp.2_Missense_Mutation_p.L403I|PDIA3_uc010ued.1_Missense_Mutation_p.L197I	p.L423_splice|p.L423I	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	11	1415	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	|423			|Thioredoxin 2.		Q13453|Q14255|Q8IYF8|Q9UMU7	Splice_Site|Missense_Mutation	SNP	ENST00000300289.5	37	c.1267_splice|c.1267C>A	CCDS10101.1																																																																																				PASS	0.376	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313	Missense_Mutation	12|13	94|98	12	94	---	---	---	---
ELL3	80237	broad.mit.edu	37	15	44066938	44066938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:44066938C>A	ENST00000319359.3	-	7	1320	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	227					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.E227*(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTCTTTTCTTCCAGTTCTACA	0.443																																						uc001zsw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(679-681)GAA>TAA		elongation factor RNA polymerase II-like 3							100.0	97.0	98.0					15																	44066938		2198	4298	6496	SO:0001587	stop_gained	80237				positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr15:44066938C>A	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.679G>T	15.37:g.44066938C>A	ENSP00000320346:p.Glu227*					ELL3_uc001zsv.1_Nonsense_Mutation_p.E181*|ELL3_uc001zsx.1_Nonsense_Mutation_p.E112*|uc001zsy.2_5'Flank	p.E227*	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	7	1082	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	227					B3KQ66|B3KX08|Q6I9Z7|Q9H634	Nonsense_Mutation	SNP	ENST00000319359.3	37	c.679G>T	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	37	6.403455	0.97537	.	.	ENSG00000128886	ENST00000319359	.	.	.	4.71	2.68	0.31781	.	0.402986	0.23680	N	0.045635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.4743	4.4382	0.11561	0.0:0.6143:0.0:0.3857	.	.	.	.	X	227	.	ENSP00000320346:E227X	E	-	1	0	ELL3	41854230	0.810000	0.29049	0.334000	0.25495	0.630000	0.37929	0.782000	0.26788	0.561000	0.29186	0.462000	0.41574	GAA		PASS	0.443	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		35	153	35	153	---	---	---	---
TRIM69	140691	broad.mit.edu	37	15	45059595	45059595	+	Silent	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:45059595A>T	ENST00000559390.1	+	8	2056	c.1128A>T	c.(1126-1128)ggA>ggT	p.G376G	TRIM69_ENST00000560442.1_Silent_p.G172G|TRIM69_ENST00000329464.4_Silent_p.G376G|TRIM69_ENST00000338264.4_Silent_p.G217G|TRIM69_ENST00000561043.1_Silent_p.G139G|TRIM69_ENST00000558173.1_Silent_p.G172G|TRIM69_ENST00000558329.1_Silent_p.G155G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	376	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G376G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCACCTCTGGAAAGTGGTACT	0.483																																					Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1126-1128)GGA>GGT		tripartite motif-containing 69 isoform a							116.0	120.0	119.0					15																	45059595		2198	4298	6496	SO:0001819	synonymous_variant	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059595A>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1128A>T	15.37:g.45059595A>T						TRIM69_uc001zui.1_Silent_p.G172G|TRIM69_uc010bdy.1_Silent_p.G155G|TRIM69_uc001zug.1_Silent_p.G376G|TRIM69_uc001zuh.1_Silent_p.G217G	p.G376G	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	8	2023	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	376			B30.2/SPRY.		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	c.1128A>T	CCDS32220.1																																																																																				PASS	0.483	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			81	166	81	166	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45387146	45387146	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:45387146C>A	ENST00000603300.1	-	32	4585	c.4383G>T	c.(4381-4383)agG>agT	p.R1461S	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1461S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1461					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R1461S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCATGGTGGTCCTGAGGTCGA	0.607																																						uc010bea.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(4381-4383)AGG>AGT		dual oxidase 2 precursor							99.0	86.0	90.0					15																	45387146		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387146C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4383G>T	15.37:g.45387146C>A	ENSP00000475084:p.Arg1461Ser					DUOX2_uc001zun.2_Missense_Mutation_p.R1461S	p.R1461S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	32	4586	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1461			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4383G>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296818	0.81025	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.41	4.5	0.54988	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.82716	2.605	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.79785	-0.1657	9	0.87932	D	0	-25.218	9.0281	0.36243	0.0:0.6794:0.2394:0.0812	.	1461	Q9NRD8	DUOX2_HUMAN	S	1461	.	ENSP00000373691:R1461S	R	-	3	2	DUOX2	43174438	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.157000	0.42320	1.420000	0.47138	0.462000	0.41574	AGG		PASS	0.607	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		22	91	22	91	---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48435118	48435118	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:48435118T>C	ENST00000324324.7	-	17	2069	c.1790A>G	c.(1789-1791)gAt>gGt	p.D597G	MYEF2_ENST00000267836.6_Missense_Mutation_p.D573G	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	597	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D597G(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGCATTACGATCCAAGCGAAC	0.363																																						uc001zwi.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1789-1791)GAT>GGT		myelin expression factor 2							166.0	148.0	154.0					15																	48435118		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48435118T>C	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1790A>G	15.37:g.48435118T>C	ENSP00000316950:p.Asp597Gly					MYEF2_uc001zwg.3_Missense_Mutation_p.D135G|MYEF2_uc001zwh.3_Missense_Mutation_p.D185G|MYEF2_uc001zwj.3_Missense_Mutation_p.D573G	p.D597G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	17	1914	-		all_lung(180;0.00217)	597			RRM 3.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1790A>G	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112534	0.77210	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.74002	-0.8;-0.8	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.82577	0.5067	L	0.46614	1.455	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.989	D	0.84323	0.0517	10	0.87932	D	0	-10.4519	16.188	0.81967	0.0:0.0:0.0:1.0	.	573;597	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	G	597;573;185	ENSP00000316950:D597G;ENSP00000267836:D573G	ENSP00000267836:D573G	D	-	2	0	MYEF2	46222410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.968000	0.87980	2.270000	0.75569	0.533000	0.62120	GAT		PASS	0.363	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		43	115	43	115	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48577447	48577447	+	Splice_Site	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:48577447G>A	ENST00000558405.1	+	20	2643		c.e20+1		SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000396577.3_Splice_Site			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.?(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTAAAAAAGGTAAGAACTTT	0.368																																						uc001zwn.3																			2	Unknown(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.e21+1		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						72.0	79.0	77.0					15																	48577447		2198	4297	6495	SO:0001630	splice_region_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48577447G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2629+1G>A	15.37:g.48577447G>A						SLC12A1_uc001zwq.3_Splice_Site_p.D648_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D604_splice	p.D877_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	21	2845	+		all_lung(180;0.00219)						A8JYA2|E9PDW4	Splice_Site	SNP	ENST00000558405.1	37	c.2629_splice	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934695	0.34189	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A1	46364739	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.797000	0.75150	2.752000	0.94435	0.655000	0.94253	.		PASS	0.368	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		Intron	14	85	14	85	---	---	---	---
DYX1C1	161582	broad.mit.edu	37	15	55724695	55724695	+	Splice_Site	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:55724695C>A	ENST00000321149.3	-	9	1520	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1_ENST00000348518.3_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	385					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.G385C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATTCCTTACCTTCTACATAC	0.348																																						uc002adc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1153-1155)GGC>TGC		dyslexia susceptibility 1 candidate 1 isoform a							95.0	85.0	88.0					15																	55724695		2193	4292	6485	SO:0001630	splice_region_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55724695C>A		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1153+1G>T	15.37:g.55724695C>A						CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002add.2_Intron	p.G385C	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	9	1521	-			385			TPR 3.		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.1153G>T	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715618	0.89112	.	.	ENSG00000256061	ENST00000321149	T	0.62639	0.01	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	U	0.000000	T	0.77658	0.4163	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75961	-0.3133	9	.	.	.	.	18.6006	0.91247	0.0:1.0:0.0:0.0	.	385	Q8WXU2	DYXC1_HUMAN	C	385	ENSP00000323275:G385C	.	G	-	1	0	DYX1C1	53511987	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.680000	0.74518	2.653000	0.90120	0.644000	0.83932	GGC		PASS	0.348	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	Missense_Mutation	9	103	9	103	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83350255	83350255	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:83350255C>T	ENST00000261722.3	-	5	645	c.438G>A	c.(436-438)atG>atA	p.M146I	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.M146I|AP3B2_ENST00000535348.1_Missense_Mutation_p.M114I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	146					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.M146I(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGCTAGCATCATGATGGGCA	0.567																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(436-438)ATG>ATA		adaptor-related protein complex 3, beta 2							110.0	112.0	111.0					15																	83350255		2091	4219	6310	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83350255C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.438G>A	15.37:g.83350255C>T	ENSP00000261722:p.Met146Ile					AP3B2_uc010uoi.1_Missense_Mutation_p.M146I|AP3B2_uc010uoj.1_Missense_Mutation_p.M114I|AP3B2_uc010uog.1_5'Flank	p.M146I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	615	-			146					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.438G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332216	0.81801	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042603	0.85682	D	0.000000	T	0.40570	0.1122	L	0.43923	1.385	0.80722	D	1	D;B;B	0.54964	0.969;0.213;0.115	D;B;B	0.70227	0.968;0.349;0.137	T	0.10870	-1.0611	10	0.56958	D	0.05	-33.5034	18.6878	0.91571	0.0:1.0:0.0:0.0	.	114;146;146	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	146;114;146;102	ENSP00000261722:M146I;ENSP00000438721:M114I;ENSP00000440984:M146I;ENSP00000441961:M102I	ENSP00000261722:M146I	M	-	3	0	AP3B2	81147309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.642000	0.89623	0.563000	0.77884	ATG		PASS	0.567	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			32	249	32	249	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86076900	86076901	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:86076900_86076901TC>AT	ENST00000394518.2	+	4	362_363	c.267_268TC>AT	c.(265-270)ttTCat>ttATat	p.89_90FH>LY	AKAP13_ENST00000361243.2_Missense_Mutation_p.89_90FH>LY|AKAP13_ENST00000560302.1_Missense_Mutation_p.89_90FH>LY	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	89					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.H90Y(1)|p.F89L(1)|p.F89_H90>LY(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGAAGACTTTCATTTCGTCCA	0.475																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(265-267)TTT>TTA|c.(268-270)CAT>TAT		A-kinase anchor protein 13 isoform 2																																				SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076900T>A|g.chr15:86076901C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86076900_86076901delinsAT	ENSP00000378026:p.F89_H90delinsLY					AKAP13_uc002bls.2_Missense_Mutation_p.F89L|AKAP13_uc002blt.1_Missense_Mutation_p.F89L|AKAP13_uc002blu.1_Missense_Mutation_p.F89L|AKAP13_uc002bls.2_Missense_Mutation_p.H90Y|AKAP13_uc002blt.1_Missense_Mutation_p.H90Y|AKAP13_uc002blu.1_Missense_Mutation_p.H90Y	p.F89L|p.H90Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN			4	437|438	+			89|90					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.267T>A|c.268C>T	CCDS32319.1																																																																																				PASS	0.475	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	300|299	28	299	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90319886	90319886	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:90319886G>T	ENST00000341735.3	+	1	298	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	100	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A100S(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCTGGCCCGCGCCCTGCACGA	0.726																																						uc002bon.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GCC>TCC		mesoderm posterior 2 homolog							5.0	7.0	7.0					15																	90319886		2103	4181	6284	SO:0001583	missense	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90319886G>T		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.298G>T	15.37:g.90319886G>T	ENSP00000342392:p.Ala100Ser					MESP2_uc010uqa.1_Intron	p.A100S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	298	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		100			Helix-loop-helix motif.		Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	c.298G>T	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170195	0.38315	.	.	ENSG00000188095	ENST00000341735	D	0.98135	-4.74	3.59	2.65	0.31530	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.98738	0.9576	M	0.91300	3.195	0.52501	D	0.999957	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	9	0.72032	D	0.01	-7.1463	11.6639	0.51363	0.0:0.1808:0.8191:0.0	.	100	Q0VG99	MESP2_HUMAN	S	100	ENSP00000342392:A100S	ENSP00000342392:A100S	A	+	1	0	MESP2	88120890	1.000000	0.71417	0.886000	0.34754	0.018000	0.09664	5.115000	0.64655	0.688000	0.31529	0.313000	0.20887	GCC		PASS	0.726	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		25	10	25	10	---	---	---	---
NGRN	51335	broad.mit.edu	37	15	90814723	90814723	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:90814723G>T	ENST00000379095.3	+	3	587	c.579G>T	c.(577-579)gtG>gtT	p.V193V	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	193					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V193V(1)|p.V121V(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CTTTGAAAGTGATAGAGTCAG	0.488																																						uc002bpf.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(1)	3						c.(577-579)GTG>GTT		neugrin							65.0	67.0	66.0					15																	90814723		2199	4298	6497	SO:0001819	synonymous_variant	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90814723G>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.579G>T	15.37:g.90814723G>T						TTLL13_uc002bpe.1_RNA|NGRN_uc002bpg.1_Silent_p.V121V	p.V193V	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		3	629	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		193					B2R6M8|Q4V9L7|Q9HBL4	Silent	SNP	ENST00000379095.3	37	c.579G>T	CCDS32329.1																																																																																				PASS	0.488	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			6	482	6	482	---	---	---	---
FAM169B	283777	broad.mit.edu	37	15	99023833	99023833	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:99023833C>G	ENST00000558256.1	-	4	429	c.180G>C	c.(178-180)atG>atC	p.M60I	FAM169B_ENST00000332908.4_Missense_Mutation_p.M60I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	60								p.M60I(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CCTCACCTTTCATCTTGGTTG	0.527																																						uc002buk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ATG>ATC		hypothetical protein LOC283777							88.0	89.0	88.0					15																	99023833		1951	4154	6105	SO:0001583	missense	283777							g.chr15:99023833C>G		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.180G>C	15.37:g.99023833C>G	ENSP00000453554:p.Met60Ile						p.M60I	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			4	430	-			60					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.180G>C	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228448	0.22542	.	.	ENSG00000185087	ENST00000332908	T	0.30981	1.51	5.06	5.06	0.68205	.	1.297960	0.04830	N	0.438500	T	0.29256	0.0728	L	0.42245	1.32	0.27171	N	0.960917	P	0.34587	0.458	B	0.24394	0.053	T	0.21861	-1.0233	10	0.41790	T	0.15	-0.8801	12.8593	0.57903	0.0:0.836:0.164:0.0	.	60	Q8N8A8	F169B_HUMAN	I	60	ENSP00000332615:M60I	ENSP00000332615:M60I	M	-	3	0	FAM169B	96841356	0.925000	0.31364	0.932000	0.37286	0.876000	0.50452	1.774000	0.38573	2.336000	0.79503	0.655000	0.94253	ATG		PASS	0.527	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		12	428	12	428	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100341319	100341319	+	RNA	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:100341319C>T	ENST00000341853.1	-	0	327					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TTTCCATTTGCCGCTCCAGCT	0.582																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							45.0	41.0	42.0					15																	100341319		1545	3555	5100			196968							g.chr15:100341319C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341319C>T						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA		NR_003260						3		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.328G>A																																																																																					PASS	0.582	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		6	627	6	627	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101597168	101597168	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:101597168C>G	ENST00000388948.3	+	28	4799	c.4440C>G	c.(4438-4440)atC>atG	p.I1480M	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.I1477M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.I1480M(1)|p.I1492M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAAGGGCATCCGCCCGGTTC	0.602																																						uc002bwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(4438-4440)ATC>ATG		leucine-rich repeat kinase 1							72.0	81.0	78.0					15																	101597168		1998	4164	6162	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101597168C>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4440C>G	15.37:g.101597168C>G	ENSP00000373600:p.Ile1480Met					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.I1480M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4759	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1480			Protein kinase.			Missense_Mutation	SNP	ENST00000388948.3	37	c.4440C>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	c	16.03	3.006242	0.54361	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.66099	-0.19;-0.19	5.03	1.61	0.23674	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055574	0.64402	D	0.000001	T	0.60170	0.2248	N	0.21282	0.65	0.42068	D	0.991198	D	0.67145	0.996	D	0.66196	0.942	T	0.55055	-0.8200	10	0.30078	T	0.28	.	9.8555	0.41084	0.0:0.6812:0.0:0.3188	.	1480	Q38SD2	LRRK1_HUMAN	M	1480;1477;171;34	ENSP00000373600:I1480M;ENSP00000284395:I1477M	ENSP00000284395:I1477M	I	+	3	3	LRRK1	99414691	0.974000	0.33945	0.999000	0.59377	0.673000	0.39480	0.210000	0.17455	0.536000	0.28733	-0.451000	0.05528	ATC		PASS	0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		48	819	48	819	---	---	---	---
TM2D3	80213	broad.mit.edu	37	15	102191910	102191910	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:102191910G>A	ENST00000333202.3	-	2	163	c.158C>T	c.(157-159)cCc>cTc	p.P53L	TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P53L|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	53						integral component of membrane (GO:0016021)		p.P53L(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGCCCTGGGAACTACTGT	0.398																																						uc002bxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)CCC>CTC		TM2 domain containing 3 isoform a							166.0	171.0	169.0					15																	102191910		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102191910G>A	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.158C>T	15.37:g.102191910G>A	ENSP00000330433:p.Pro53Leu					TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Missense_Mutation_p.P53L	p.P53L	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	188	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		53					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.158C>T	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691172	0.48097	.	.	ENSG00000184277	ENST00000333202	T	0.73681	-0.77	4.58	4.58	0.56647	.	0.259072	0.37577	N	0.002021	T	0.79131	0.4394	L	0.56769	1.78	0.80722	D	1	D;B	0.67145	0.996;0.278	P;B	0.62014	0.897;0.034	T	0.73946	-0.3822	10	0.10377	T	0.69	-21.8091	13.6016	0.62022	0.0:0.0:1.0:0.0	.	53;53	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	L	53	ENSP00000330433:P53L	ENSP00000330433:P53L	P	-	2	0	TM2D3	100009433	1.000000	0.71417	0.990000	0.47175	0.668000	0.39293	2.801000	0.47908	2.484000	0.83849	0.557000	0.71058	CCC		PASS	0.398	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		41	850	41	850	---	---	---	---
TM2D3	80213	broad.mit.edu	37	15	102191952	102191952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:102191952G>C	ENST00000333202.3	-	2	121	c.116C>G	c.(115-117)tCa>tGa	p.S39*	TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000559107.1_Nonsense_Mutation_p.S39*|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	39						integral component of membrane (GO:0016021)		p.S39*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCCTTTATTGACTGAGCCAG	0.433																																						uc002bxi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(115-117)TCA>TGA		TM2 domain containing 3 isoform a							154.0	161.0	158.0					15																	102191952		2203	4300	6503	SO:0001587	stop_gained	80213					integral to membrane		g.chr15:102191952G>C	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.116C>G	15.37:g.102191952G>C	ENSP00000330433:p.Ser39*					TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Nonsense_Mutation_p.S39*	p.S39*	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	146	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		39					B2RDK9|Q9H046|Q9H651	Nonsense_Mutation	SNP	ENST00000333202.3	37	c.116C>G	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880607	0.51801	.	.	ENSG00000184277	ENST00000333202	.	.	.	4.58	2.67	0.31697	.	2.068930	0.02086	N	0.052706	.	.	.	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-0.2729	6.8846	0.24193	0.0988:0.1776:0.7236:0.0	.	.	.	.	X	39	.	ENSP00000330433:S39X	S	-	2	0	TM2D3	100009475	0.011000	0.17503	0.000000	0.03702	0.361000	0.29550	1.941000	0.40233	0.615000	0.30124	-0.262000	0.10625	TCA		PASS	0.433	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		32	843	32	843	---	---	---	---
TM2D3	80213	broad.mit.edu	37	15	102191970	102191970	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr15:102191970G>A	ENST00000333202.3	-	2	103	c.98C>T	c.(97-99)tCg>tTg	p.S33L	TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.S33L|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	33						integral component of membrane (GO:0016021)		p.S33L(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCCTGCGATTGCTCTAA	0.468																																						uc002bxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)TCG>TTG		TM2 domain containing 3 isoform a							137.0	141.0	140.0					15																	102191970		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102191970G>A	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.98C>T	15.37:g.102191970G>A	ENSP00000330433:p.Ser33Leu					TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Missense_Mutation_p.S33L	p.S33L	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	128	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		33					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.98C>T	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068043	0.36470	.	.	ENSG00000184277	ENST00000333202	T	0.73363	-0.74	4.4	3.48	0.39840	.	1.867120	0.02287	N	0.069941	T	0.70527	0.3234	L	0.43152	1.355	0.80722	D	1	B;B	0.17465	0.022;0.007	B;B	0.11329	0.006;0.002	T	0.54629	-0.8265	10	0.52906	T	0.07	-13.5044	8.9005	0.35493	0.1075:0.0:0.8925:0.0	.	33;33	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	L	33	ENSP00000330433:S33L	ENSP00000330433:S33L	S	-	2	0	TM2D3	100009493	0.997000	0.39634	0.910000	0.35882	0.187000	0.23431	1.924000	0.40065	1.161000	0.42604	-0.259000	0.10710	TCG		PASS	0.468	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		26	817	26	817	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819118	2819118	+	Silent	SNP	T	T	C	rs531076704		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:2819118T>C	ENST00000301740.8	+	12	8403	c.7854T>C	c.(7852-7854)tcT>tcC	p.S2618S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2618	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S2618S(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcttcatcttcctcctcct	0.587																																						uc002crk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7852-7854)TCT>TCC		splicing coactivator subunit SRm300							160.0	135.0	143.0					16																	2819118		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819118T>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7854T>C	16.37:g.2819118T>C							p.S2618S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			12	8403	+			2618			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.7854T>C	CCDS32373.1																																																																																				PASS	0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			56	105	56	105	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3788606	3788606	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:3788606A>C	ENST00000262367.5	-	26	5157	c.4348T>G	c.(4348-4350)Tac>Gac	p.Y1450D	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1450	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.		Y -> H (in RSTS1). {ECO:0000269|PubMed:15706485}.		cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y1450D(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATCTCATGGTAAACGGCTGTG	0.398			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)	p.Y1450C(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	GRCh37	CM050569	CREBBP	M		c.(4348-4350)TAC>GAC		CREB binding protein isoform a							76.0	70.0	72.0					16																	3788606		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788606A>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4348T>G	16.37:g.3788606A>C	ENSP00000262367:p.Tyr1450Asp					CREBBP_uc002cvw.2_Missense_Mutation_p.Y1412D	p.Y1450D	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4552	-		Ovarian(90;0.0266)	1450		Y -> H (in RSTS1).	Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4348T>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	19.78	3.891379	0.72524	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94280	-3.39;-3.39	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	D	0.97820	0.9284	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99201	1.0873	10	0.87932	D	0	-19.0114	15.8518	0.78937	1.0:0.0:0.0:0.0	.	1480;1450	Q4LE28;Q92793	.;CBP_HUMAN	D	1450;1480;1412;39	ENSP00000262367:Y1450D;ENSP00000371502:Y1412D	ENSP00000262367:Y1450D	Y	-	1	0	CREBBP	3728607	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.215000	0.71742	0.459000	0.35465	TAC		PASS	0.398	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		26	43	26	43	---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11785816	11785816	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:11785816T>C	ENST00000356957.3	-	9	1418	c.1311A>G	c.(1309-1311)gcA>gcG	p.A437A	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.A410A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	437					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.A410A(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGGCAGCTGTGCCGGCACTT	0.637																																						uc010buu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)GCA>GCG		thioredoxin domain containing 11							36.0	35.0	35.0					16																	11785816		2197	4299	6496	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785816T>C	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1311A>G	16.37:g.11785816T>C						TXNDC11_uc002dbg.1_Silent_p.A410A	p.A437A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			9	1373	-			437					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1311A>G																																																																																					PASS	0.637	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		14	74	14	74	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20359951	20359951	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:20359951G>T	ENST00000570689.1	-	3	818	c.672C>A	c.(670-672)aaC>aaA	p.N224K	UMOD_ENST00000396142.2_Missense_Mutation_p.N224K|UMOD_ENST00000424589.1_Missense_Mutation_p.N257K|UMOD_ENST00000302509.4_Missense_Mutation_p.N224K|UMOD_ENST00000396138.4_Missense_Mutation_p.N273K|UMOD_ENST00000396134.2_Missense_Mutation_p.N257K			P07911	UROM_HUMAN	uromodulin	224					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.N224K(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGCGGCCGTGTTGCAGCGCA	0.711																																						uc002dgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)AAC>AAA		uromodulin precursor							10.0	9.0	9.0					16																	20359951		2183	4253	6436	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20359951G>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.672C>A	16.37:g.20359951G>T	ENSP00000460548:p.Asn224Lys					UMOD_uc002dha.2_Missense_Mutation_p.N224K|UMOD_uc002dhb.2_Missense_Mutation_p.N257K	p.N224K	NM_003361	NP_003352	P07911	UROM_HUMAN			3	801	-			224					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.672C>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	g	19.07	3.756826	0.69648	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.13	5.13	0.70059	.	0.220947	0.32081	N	0.006607	D	0.95847	0.8648	M	0.83012	2.62	0.39479	D	0.967859	P;P	0.52316	0.952;0.745	B;B	0.40636	0.335;0.164	D	0.96484	0.9358	10	0.49607	T	0.09	-31.325	16.0766	0.80971	0.0:0.0:1.0:0.0	.	257;224	E9PEA4;P07911	.;UROM_HUMAN	K	224;257;257;224;202;224	ENSP00000379438:N257K;ENSP00000416346:N257K;ENSP00000306279:N224K;ENSP00000379446:N224K	ENSP00000306279:N224K	N	-	3	2	UMOD	20267452	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.491000	0.22419	2.369000	0.80426	0.556000	0.70494	AAC		PASS	0.711	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			4	15	4	15	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28922461	28922461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:28922461C>A	ENST00000358201.4	-	6	1522	c.934G>T	c.(934-936)Gag>Tag	p.E312*	RABEP2_ENST00000544477.1_Nonsense_Mutation_p.E241*|RABEP2_ENST00000357573.6_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	312					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E312*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCGTCCCGCTCGCGACTGACG	0.662																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(934-936)GAG>TAG		rabaptin, RAB GTPase binding effector protein 2							49.0	59.0	56.0					16																	28922461		2143	4245	6388	SO:0001587	stop_gained	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28922461C>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.934G>T	16.37:g.28922461C>A	ENSP00000350934:p.Glu312*					uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.E241*|RABEP2_uc010byn.2_Intron|RABEP2_uc002drr.2_Nonsense_Mutation_p.E312*	p.E312*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			6	982	-			312			Potential.			Nonsense_Mutation	SNP	ENST00000358201.4	37	c.934G>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749876	0.89753	.	.	ENSG00000177548	ENST00000358201;ENST00000544477	.	.	.	5.03	4.06	0.47325	.	0.137522	0.46145	D	0.000313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-16.919	14.1913	0.65639	0.0:0.8489:0.1511:0.0	.	.	.	.	X	312;241	.	ENSP00000350934:E312X	E	-	1	0	RABEP2	28829962	0.998000	0.40836	0.846000	0.33378	0.945000	0.59286	5.087000	0.64480	1.088000	0.41272	0.561000	0.74099	GAG		PASS	0.662	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		35	98	35	98	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382415	31382415	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:31382415G>A	ENST00000268296.4	+	15	1842	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	ITGAX_ENST00000562522.1_Missense_Mutation_p.G574D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	574					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.G574D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGGATCGCGGGCTCCCAGCTC	0.582																																						uc002ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1720-1722)GGC>GAC		integrin alpha X precursor							77.0	85.0	82.0					16																	31382415		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382415G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1721G>A	16.37:g.31382415G>A	ENSP00000268296:p.Gly574Asp					ITGAX_uc002ebt.2_Missense_Mutation_p.G574D|ITGAX_uc010vfk.1_Missense_Mutation_p.G224D	p.G574D	NM_000887	NP_000878	P20702	ITAX_HUMAN			15	1788	+			574			FG-GAP 7.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1721G>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582233	0.65992	.	.	ENSG00000140678	ENST00000268296	T	0.55413	0.52	5.24	1.82	0.25136	.	.	.	.	.	T	0.76615	0.4012	M	0.91300	3.195	0.28915	N	0.89245	D	0.76494	0.999	D	0.69479	0.964	T	0.74463	-0.3657	9	0.87932	D	0	.	14.8607	0.70379	0.0:0.5134:0.4866:0.0	.	574	P20702	ITAX_HUMAN	D	574	ENSP00000268296:G574D	ENSP00000268296:G574D	G	+	2	0	ITGAX	31289916	0.398000	0.25279	0.020000	0.16555	0.133000	0.20885	0.795000	0.26972	0.158000	0.19367	0.655000	0.94253	GGC		PASS	0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		63	329	63	329	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31405562	31405562	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:31405562G>C	ENST00000389202.2	+	2	86	c.37G>C	c.(37-39)Gct>Cct	p.A13P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	13					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A13P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCAGTCCTGGCTTCTTATCA	0.512																																						uc002ebv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(37-39)GCT>CCT		integrin, alpha D precursor							69.0	63.0	65.0					16																	31405562		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31405562G>C	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.37G>C	16.37:g.31405562G>C	ENSP00000373854:p.Ala13Pro					ITGAD_uc010vfl.1_Missense_Mutation_p.A13P|ITGAD_uc010cap.1_Missense_Mutation_p.A13P	p.A13P	NM_005353	NP_005344	Q13349	ITAD_HUMAN			2	86	+			13					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.37G>C	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419812	0.25552	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.59364	0.27	4.54	2.48	0.30137	.	.	.	.	.	T	0.48624	0.1510	L	0.47716	1.5	0.25198	N	0.990076	B;B;B	0.22211	0.066;0.024;0.024	B;B;B	0.27715	0.082;0.048;0.048	T	0.47623	-0.9103	9	0.66056	D	0.02	.	5.5132	0.16892	0.106:0.0:0.6989:0.1951	.	13;29;13	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	P	29;13	ENSP00000373854:A13P	ENSP00000373854:A13P	A	+	1	0	ITGAD	31313063	0.995000	0.38212	0.160000	0.22671	0.747000	0.42532	1.750000	0.38329	0.306000	0.22856	0.561000	0.74099	GCT		PASS	0.512	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		26	88	26	88	---	---	---	---
C16orf58	64755	broad.mit.edu	37	16	31502156	31502156	+	Nonstop_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:31502156T>A	ENST00000327237.2	-	13	1446	c.1407A>T	c.(1405-1407)tgA>tgT	p.*469C	AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_Nonstop_Mutation_p.*424C|SLC5A2_ENST00000564197.1_3'UTR|C16orf58_ENST00000570164.1_Nonstop_Mutation_p.*467C			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	0						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.*469C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TCTGGGCTGCTCACAAGACCT	0.587																																						uc002eci.1																			1	Nonstop extension(1)		lung(1)	ovary(1)|breast(1)	2						c.(1405-1407)TGA>TGT		hypothetical protein LOC64755							86.0	79.0	82.0					16																	31502156		2197	4300	6497	SO:0001578	stop_lost	64755					integral to membrane		g.chr16:31502156T>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.1407A>T	16.37:g.31502156T>A						C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Nonstop_Mutation_p.*207C	p.*469C	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN			13	1419	-			469					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Nonstop_Mutation	SNP	ENST00000327237.2	37	c.1407A>T	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577369	0.45902	.	.	ENSG00000140688	ENST00000327237;ENST00000452223	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3683	0.55240	0.0:0.0:0.0:1.0	.	.	.	.	C	469;423	.	.	X	-	3	0	C16orf58	31409657	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	2.645000	0.46621	2.172000	0.68678	0.533000	0.62120	TGA		PASS	0.587	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		95	234	95	234	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55361550	55361550	+	Nonsense_Mutation	SNP	G	G	T	rs201320958	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:55361550G>T	ENST00000290552.7	+	4	1798	c.466G>T	c.(466-468)Gag>Tag	p.E156*	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	156					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E156*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGCGACCCGGGAGACCACCAG	0.562																																						uc002ehy.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(5)|ovary(1)	6						c.(466-468)GAG>TAG		iroquois homeobox protein 6							91.0	70.0	77.0					16																	55361550		2198	4300	6498	SO:0001587	stop_gained	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361550G>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.466G>T	16.37:g.55361550G>T	ENSP00000290552:p.Glu156*					IRX6_uc002ehx.2_Nonsense_Mutation_p.E156*|IRX6_uc010ccb.1_RNA	p.E156*	NM_024335	NP_077311	P78412	IRX6_HUMAN			4	999	+			156			Homeobox; TALE-type.		B2RN06|Q7Z2K0	Nonsense_Mutation	SNP	ENST00000290552.7	37	c.466G>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	49	15.569385	0.99838	.	.	ENSG00000159387	ENST00000290552	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.268	20.2585	0.98435	0.0:0.0:1.0:0.0	.	.	.	.	X	156	.	ENSP00000290552:E156X	E	+	1	0	IRX6	53919051	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.753000	0.98904	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.562	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		38	69	38	69	---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57601428	57601428	+	Missense_Mutation	SNP	C	C	A	rs371516015		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:57601428C>A	ENST00000340339.4	+	8	1269	c.746C>A	c.(745-747)aCg>aAg	p.T249K	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.T249K	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	249					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.T249K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCACCTCTTACGTACATCTCC	0.607																																						uc002elx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(745-747)ACG>AAG		G protein-coupled receptor 114 precursor							101.0	80.0	87.0					16																	57601428		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601428C>A	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.746C>A	16.37:g.57601428C>A	ENSP00000342981:p.Thr249Lys					GPR114_uc010vhr.1_Missense_Mutation_p.T249K|GPR114_uc002ely.2_Missense_Mutation_p.T249K	p.T249K	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			8	831	+			249			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.746C>A	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830055	0.32329	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.40225	1.04;1.04	3.98	1.76	0.24704	GPCR, family 2-like (1);	0.603530	0.13588	N	0.376836	T	0.47192	0.1432	M	0.66439	2.03	0.25432	N	0.98818	B;P	0.48834	0.448;0.916	B;P	0.48704	0.262;0.587	T	0.34700	-0.9818	10	0.54805	T	0.06	.	9.3344	0.38040	0.4823:0.5177:0.0:0.0	.	249;249	B4E148;Q8IZF4	.;GP114_HUMAN	K	249	ENSP00000342981:T249K;ENSP00000290823:T249K	ENSP00000342981:T249K	T	+	2	0	GPR114	56158929	0.000000	0.05858	0.002000	0.10522	0.090000	0.18270	0.245000	0.18142	0.553000	0.29044	0.306000	0.20318	ACG		PASS	0.607	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		73	88	73	88	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65022192	65022192	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:65022192T>C	ENST00000268603.4	-	7	1482	c.867A>G	c.(865-867)agA>agG	p.R289R	CDH11_ENST00000566827.1_Silent_p.R163R|CDH11_ENST00000394156.3_Silent_p.R289R	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R289R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAGCTTTCACTCTTCCTACTT	0.403			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(865-867)AGA>AGG		cadherin 11, type 2 preproprotein							223.0	200.0	208.0					16																	65022192		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022192T>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.867A>G	16.37:g.65022192T>C		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.R289R|CDH11_uc010vin.1_Silent_p.R163R	p.R289R	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1301	-		Ovarian(137;0.0973)	289			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.867A>G	CCDS10803.1																																																																																				PASS	0.403	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		49	277	49	277	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67572954	67572954	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:67572954A>T	ENST00000379312.3	+	4	452	c.331A>T	c.(331-333)Aag>Tag	p.K111*	FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.K127*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.K107*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.K121*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.K127*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	111						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.K107*(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)		AAGGGAGTCCAAGAGGAATTC	0.587																																						uc010vjp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(379-381)AAG>TAG		hypothetical protein LOC79567							72.0	69.0	70.0					16																	67572954		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67572954A>T	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.331A>T	16.37:g.67572954A>T	ENSP00000368614:p.Lys111*					FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Nonsense_Mutation_p.K107*|FAM65A_uc010cej.2_Nonsense_Mutation_p.K110*|FAM65A_uc002eti.1_Nonsense_Mutation_p.K70*|FAM65A_uc010vjq.1_Nonsense_Mutation_p.K121*|FAM65A_uc002etj.1_Nonsense_Mutation_p.K106*|FAM65A_uc002etk.2_Nonsense_Mutation_p.K106*	p.K127*	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	4	475	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	111			Potential.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.379A>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.304522|5.304522	0.95601|0.95601	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67011	.|0.2848	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71974	.|-0.4430	.|3	0.02654|.	T|.	1|.	-23.7801|-23.7801	15.0366|15.0366	0.71751|0.71751	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	111;107;127;121|101	.|.	ENSP00000042381:K107X|.	K|Q	+|+	1|2	0|0	FAM65A|FAM65A	66130455|66130455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.668000|8.668000	0.91158|0.91158	1.974000|1.974000	0.57490|0.57490	0.397000|0.397000	0.26171|0.26171	AAG|CAA		PASS	0.587	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		43	148	43	148	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76592434	76592434	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr16:76592434G>C	ENST00000476707.1	+	23	3929	c.3790G>C	c.(3790-3792)Gct>Cct	p.A1264P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A1188P|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A1260P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A1212P|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1261					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A1260P(1)|p.A1188P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CACTGCCATAGCTGTTCGCAT	0.368																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3781-3783)GCT>CCT		cell recognition protein CASPR4 isoform 1							86.0	86.0	86.0					16																	76592434		1978	4205	6183	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592434G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3790G>C	16.37:g.76592434G>C	ENSP00000417628:p.Ala1264Pro					CNTNAP4_uc002fev.1_Missense_Mutation_p.A1125P|CNTNAP4_uc010chb.1_Missense_Mutation_p.A1188P|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1264P	p.A1261P	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			26	4166	+			1261			Helical; (Potential).		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3781G>C		.	.	.	.	.	.	.	.	.	.	G	18.21	3.573452	0.65765	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.65	4.69	0.59074	.	0.000000	0.41194	D	0.000929	T	0.80808	0.4694	.	.	.	0.43076	D	0.994721	P;D;D	0.71674	0.955;0.984;0.998	P;P;D	0.69654	0.786;0.866;0.965	D	0.83602	0.0129	9	0.59425	D	0.04	.	14.6438	0.68745	0.0692:0.0:0.9308:0.0	.	1188;1264;1261	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	1260;1212;1188;1264	ENSP00000306893:A1260P;ENSP00000439733:A1212P;ENSP00000418741:A1188P;ENSP00000417628:A1264P	ENSP00000306893:A1260P	A	+	1	0	CNTNAP4	75149935	1.000000	0.71417	0.849000	0.33467	0.999000	0.98932	4.412000	0.59787	1.621000	0.50320	0.655000	0.94253	GCT		PASS	0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		35	48	35	48	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1638985	1638985	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:1638985G>A	ENST00000409644.1	+	8	5299	c.5299G>A	c.(5299-5301)Gtg>Atg	p.V1767M	WDR81_ENST00000437219.2_Missense_Mutation_p.V564M|WDR81_ENST00000419248.1_Missense_Mutation_p.V540M|WDR81_ENST00000446363.1_Missense_Mutation_p.V406M|WDR81_ENST00000309182.5_Missense_Mutation_p.V716M|WDR81_ENST00000545662.1_Missense_Mutation_p.V398M|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1767					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.V716M(1)|p.V1767M(1)|p.V564M(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGCGCTTTGTGGACTGCAG	0.652																																						uc002fti.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1618-1620)GTG>ATG		WD repeat domain 81 isoform 4							52.0	48.0	50.0					17																	1638985		2202	4299	6501	SO:0001583	missense	124997							g.chr17:1638985G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5299G>A	17.37:g.1638985G>A	ENSP00000386609:p.Val1767Met					WDR81_uc002fth.2_Missense_Mutation_p.V716M|WDR81_uc010vqp.1_Missense_Mutation_p.V564M|WDR81_uc002ftj.2_Missense_Mutation_p.V1767M|WDR81_uc010vqq.1_Missense_Mutation_p.V398M	p.V540M	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	1879	+			540					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.1618G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531963	0.85812	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99;4.99	5.81	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.115836	0.56097	N	0.000032	T	0.02571	0.0078	L	0.34521	1.04	0.45415	D	0.998392	P;P;D;P	0.60575	0.944;0.93;0.988;0.944	B;P;P;P	0.54664	0.361;0.483;0.758;0.46	T	0.61874	-0.6973	10	0.52906	T	0.07	.	6.8445	0.23980	0.2912:0.0:0.7088:0.0	.	398;564;894;716	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	M	564;716;406;540;1767;518;398	ENSP00000391074:V564M;ENSP00000312074:V716M;ENSP00000401560:V406M;ENSP00000407845:V540M;ENSP00000386609:V1767M;ENSP00000442726:V398M	ENSP00000312074:V716M	V	+	1	0	WDR81	1585735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.275000	0.65575	1.462000	0.47948	0.655000	0.94253	GTG		PASS	0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		177	32	177	32	---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6328914	6328914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:6328914C>A	ENST00000381129.3	-	6	1101	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Nonsense_Mutation_p.E278*|AIPL1_ENST00000574506.1_Nonsense_Mutation_p.E329*|AIPL1_ENST00000576776.1_Nonsense_Mutation_p.E317*|AIPL1_ENST00000570466.1_Nonsense_Mutation_p.E319*|AIPL1_ENST00000576307.1_Nonsense_Mutation_p.E281*	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	341					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.E341*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		gcgggtggctctgtgggtggc	0.682																																						uc002gcp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1021-1023)GAG>TAG		aryl hydrocarbon receptor interacting							93.0	82.0	85.0					17																	6328914		2203	4299	6502	SO:0001587	stop_gained	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6328914C>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.1021G>T	17.37:g.6328914C>A	ENSP00000370521:p.Glu341*					AIPL1_uc002gcq.2_Nonsense_Mutation_p.E281*|AIPL1_uc002gcr.2_Nonsense_Mutation_p.E278*|AIPL1_uc010clk.2_Nonsense_Mutation_p.E319*|AIPL1_uc010cll.2_Nonsense_Mutation_p.E317*|AIPL1_uc002gcs.2_3'UTR	p.E341*	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	1116	-			341					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Nonsense_Mutation	SNP	ENST00000381129.3	37	c.1021G>T	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343739	0.24339	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	.	.	.	3.15	-6.3	0.02007	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	0.6817	0.00876	0.2518:0.3285:0.2198:0.1998	.	.	.	.	X	341;281;278	.	ENSP00000250087:E278X	E	-	1	0	AIPL1	6269638	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	-2.657000	0.00421	-0.672000	0.03802	GAG		PASS	0.682	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		273	85	273	85	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	rs587782664		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(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	GRCh37	CM011014	TP53	M		c.(709-711)ATG>ATT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							130.0	102.0	112.0					17																	7577570		2203	4300	6503	SO:0001583	missense	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.chr17:7577570C>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.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile	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_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I	p.M237I	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	905	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.711G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		102	45	102	45	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9846539	9846539	+	Missense_Mutation	SNP	G	G	T	rs370319105		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:9846539G>T	ENST00000432992.2	-	7	790	c.630C>A	c.(628-630)gaC>gaA	p.D210E	GAS7_ENST00000437099.2_Missense_Mutation_p.D146E|GAS7_ENST00000323816.4_Missense_Mutation_p.D150E|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000585266.1_Missense_Mutation_p.D150E|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.D146E|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.D146E|GAS7_ENST00000580865.1_Missense_Mutation_p.D70E	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	210	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D210E(1)|p.D70E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGCCTTGGGGGTCCTTCTTAT	0.527			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Missense(2)		lung(2)	lung(1)|pancreas(1)	2						c.(628-630)GAC>GAA		growth arrest-specific 7 isoform c							138.0	125.0	129.0					17																	9846539		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9846539G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.630C>A	17.37:g.9846539G>T	ENSP00000407552:p.Asp210Glu					GAS7_uc010vvc.1_Missense_Mutation_p.D24E|GAS7_uc002gmh.1_Missense_Mutation_p.D70E|GAS7_uc010vvd.1_Missense_Mutation_p.D162E|GAS7_uc002gmi.2_Missense_Mutation_p.D146E|GAS7_uc002gmj.1_Missense_Mutation_p.D150E|GAS7_uc010coh.1_Missense_Mutation_p.D150E	p.D210E	NM_201433	NP_958839	O60861	GAS7_HUMAN			7	791	-			210			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.630C>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767664	0.69878	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.21543	2.0	5.36	-0.88	0.10610	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.35723	1.085	0.48135	D	0.999593	D;D;B;P	0.59767	0.986;0.986;0.22;0.817	P;P;B;B	0.61800	0.894;0.848;0.062;0.332	T	0.01133	-1.1441	9	.	.	.	-0.4969	10.2741	0.43499	0.5593:0.0:0.4407:0.0	.	162;150;70;210	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	E	210;150;149;70;150;24	ENSP00000379421:D150E	.	D	-	3	2	GAS7	9787264	0.973000	0.33851	0.997000	0.53966	0.999000	0.98932	0.166000	0.16583	-0.045000	0.13468	0.655000	0.94253	GAC		PASS	0.527	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		12	362	12	362	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10233743	10233743	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:10233743T>G	ENST00000418404.3	-	20	2559	c.2396A>C	c.(2395-2397)tAc>tCc	p.Y799S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.Y799S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	799	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Y799S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGCATCAGGTACCCCCTGCA	0.547																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2395-2397)TAC>TCC		myosin, heavy polypeptide 13, skeletal muscle							91.0	95.0	94.0					17																	10233743		2202	4300	6502	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233743T>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2396A>C	17.37:g.10233743T>G	ENSP00000404570:p.Tyr799Ser						p.Y799S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			21	2486	-			799			IQ.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2396A>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	3.662	-0.069308	0.07228	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.73789	-0.78	3.97	1.6	0.23607	.	.	.	.	.	T	0.76371	0.3978	M	0.88704	2.975	0.28946	N	0.890712	B	0.15473	0.013	B	0.20184	0.028	T	0.69756	-0.5059	9	0.51188	T	0.08	.	8.9596	0.35838	0.4297:0.0:0.0:0.5703	.	799	Q9UKX3	MYH13_HUMAN	S	799;474	ENSP00000252172:Y799S	ENSP00000252172:Y799S	Y	-	2	0	MYH13	10174468	0.005000	0.15991	0.802000	0.32245	0.070000	0.16714	0.003000	0.13083	0.168000	0.19655	-0.336000	0.08194	TAC		PASS	0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		40	10	40	10	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10408812	10408812	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:10408812C>T	ENST00000226207.5	-	20	2285	c.2191G>A	c.(2191-2193)Gca>Aca	p.A731T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	731	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A731T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATAGCACTTGCATTTAACACC	0.423																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2191-2193)GCA>ACA		myosin, heavy chain 1, skeletal muscle, adult							77.0	71.0	73.0					17																	10408812		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408812C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2191G>A	17.37:g.10408812C>T	ENSP00000226207:p.Ala731Thr					uc002gml.1_Intron	p.A731T	NM_005963	NP_005954	P12882	MYH1_HUMAN			20	2285	-			731			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2191G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747783	0.69533	.	.	ENSG00000109061	ENST00000226207	D	0.87491	-2.26	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000640	D	0.91965	0.7455	L	0.57536	1.79	0.50171	D	0.999856	D	0.63046	0.992	D	0.63381	0.914	D	0.92279	0.5832	10	0.87932	D	0	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	731	P12882	MYH1_HUMAN	T	731	ENSP00000226207:A731T	ENSP00000226207:A731T	A	-	1	0	MYH1	10349537	0.187000	0.23238	1.000000	0.80357	0.998000	0.95712	0.493000	0.22451	2.745000	0.94114	0.650000	0.86243	GCA		PASS	0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		12	116	12	116	---	---	---	---
SMARCE1	6605	broad.mit.edu	37	17	38788534	38788534	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:38788534C>T	ENST00000348513.6	-	8	1407	c.627G>A	c.(625-627)gaG>gaA	p.E209E	SMARCE1_ENST00000580419.1_Silent_p.E174E|SMARCE1_ENST00000431889.2_Silent_p.E191E|SMARCE1_ENST00000578044.1_Silent_p.E139E|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Silent_p.E139E|SMARCE1_ENST00000544009.1_Silent_p.E139E|SMARCE1_ENST00000377808.4_Silent_p.E174E	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	209					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.E209E(1)		large_intestine(1)	1		Breast(137;0.000812)				GCACCACACTCTCACTAAGAA	0.463																																						uc002hux.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)GAG>GAA		SWI/SNF-related matrix-associated							108.0	98.0	102.0					17																	38788534		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38788534C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.627G>A	17.37:g.38788534C>T						SMARCE1_uc010wff.1_Silent_p.E174E|SMARCE1_uc010wfg.1_Silent_p.E139E|SMARCE1_uc002huy.2_Silent_p.E174E|SMARCE1_uc010wfh.1_Silent_p.E139E|SMARCE1_uc010wfi.1_Silent_p.E191E	p.E209E	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			8	751	-		Breast(137;0.000812)	209					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.627G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.306719|1.306719	0.23736|0.23736	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000264640|ENST00000400122	.|D	.|0.97404	.|-4.37	5.63|5.63	3.62|3.62	0.41486|0.41486	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.96769|0.96769	0.8945|0.8945	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.95657|0.95657	0.8712|0.8712	6|5	0.62326|.	D|.	0.03|.	.|.	11.6165|11.6165	0.51092|0.51092	0.0:0.7684:0.0:0.2316|0.0:0.7684:0.0:0.2316	.|.	.|.	.|.	.|.	K|K	23|35	.|ENSP00000411607:R35K	ENSP00000264640:E23K|.	E|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36042060|36042060	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.695000|0.695000	0.25527|0.25527	1.529000|1.529000	0.49120|0.49120	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.463	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		177	33	177	33	---	---	---	---
KRTAP1-1	81851	broad.mit.edu	37	17	39197320	39197320	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:39197320T>C	ENST00000306271.4	-	1	393	c.330A>G	c.(328-330)ggA>ggG	p.G110G		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	110			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.			keratin filament (GO:0045095)		p.G110G(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCTCACAGCTCCACTGCTGC	0.642																																						uc002hvw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)GGA>GGG		keratin associated protein 1-1							22.0	27.0	25.0					17																	39197320		1997	4151	6148	SO:0001819	synonymous_variant	81851					extracellular region|keratin filament		g.chr17:39197320T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.330A>G	17.37:g.39197320T>C							p.G110G	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	394	-		Breast(137;0.000496)	110		Missing (in allele KAP1.7).			A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	c.330A>G	CCDS42324.1																																																																																				PASS	0.642	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		58	20	58	20	---	---	---	---
KRTAP4-2	85291	broad.mit.edu	37	17	39334352	39334352	+	Missense_Mutation	SNP	C	C	T	rs186526050	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:39334352C>T	ENST00000377726.2	-	1	108	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	22	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.R22H(1)|p.R139H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGACGGCAGCAGTT	0.627													C|||	8	0.00159744	0.0053	0.0	5008	,	,		19433	0.0		0.0	False		,,,				2504	0.001					uc002hwd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(64-66)CGT>CAT		keratin associated protein 4-2		C	HIS/ARG	12,4390		0,12,2189	67.0	66.0	66.0		65	-8.4	0.0	17		66	0,8598		0,0,4299	no	missense	KRTAP4-2	NM_033062.3	29	0,12,6488	TT,TC,CC		0.0,0.2726,0.0923	benign	22/137	39334352	12,12988	2201	4299	6500	SO:0001583	missense	85291					keratin filament		g.chr17:39334352C>T	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.65G>A	17.37:g.39334352C>T	ENSP00000366955:p.Arg22His						p.R22H	NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	109	-		Breast(137;0.000496)	22			2.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.65G>A	CCDS11384.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	.	11.08	1.533632	0.27387	0.002726	0.0	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01495	4.83	4.2	-8.41	0.00961	.	2.830950	0.01536	U	0.019031	T	0.01627	0.0052	M	0.61703	1.905	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.31752	-0.9932	10	0.48119	T	0.1	.	5.5213	0.16933	0.2166:0.2459:0.0:0.5375	.	22	Q9BYR5	KRA42_HUMAN	H	22;139	ENSP00000366955:R22H	ENSP00000366955:R22H	R	-	2	0	KRTAP4-2	36587878	0.000000	0.05858	0.000000	0.03702	0.672000	0.39443	-1.864000	0.01650	-2.455000	0.00540	-0.363000	0.07495	CGT		PASS	0.627	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			49	315	49	315	---	---	---	---
KRT34	3885	broad.mit.edu	37	17	39535405	39535405	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:39535405C>T	ENST00000394001.1	-	6	1056	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	342	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L342L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CGCTCTCCGTCAGCGTGTTTT	0.562																																						uc002hwm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1024-1026)CTG>CTA		keratin 34							78.0	70.0	73.0					17																	39535405		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535405C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1026G>A	17.37:g.39535405C>T							p.L342L	NM_021013	NP_066293	O76011	KRT34_HUMAN			6	1038	-		Breast(137;0.000496)	342			Rod.|Coil 2.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1026G>A	CCDS11390.1																																																																																				PASS	0.562	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		140	27	140	27	---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40826032	40826032	+	Splice_Site	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:40826032C>T	ENST00000591022.1	-	3	606		c.e3-1		PLEKHH3_ENST00000456950.2_Splice_Site|PLEKHH3_ENST00000412503.1_Splice_Site|PLEKHH3_ENST00000293349.6_Splice_Site	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3						signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCTCTGCAGCCTGGGCCAGAG	0.657																																						uc002iau.2																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e3-1		pleckstrin homology domain containing, family H							26.0	29.0	28.0					17																	40826032		2202	4297	6499	SO:0001630	splice_region_variant	79990				signal transduction	cytoskeleton		g.chr17:40826032C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.219-1G>A	17.37:g.40826032C>T						PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_Splice_Site|PLEKHH3_uc002iav.2_Splice_Site|PLEKHH3_uc010cym.1_Splice_Site|PLEKHH3_uc002iaw.2_Splice_Site_p.R73_splice	p.R73_splice	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	3	686	-		Breast(137;0.00116)						C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Splice_Site	SNP	ENST00000591022.1	37	c.219_splice	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271958	0.59649	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4207	0.55518	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHH3	38079558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.343000	0.52167	2.285000	0.76669	0.491000	0.48974	.		PASS	0.657	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	Intron	51	43	51	43	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40880863	40880863	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:40880863G>T	ENST00000428826.2	-	3	218	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	EZH1_ENST00000592743.1_Missense_Mutation_p.Q33K|EZH1_ENST00000590078.1_Intron|EZH1_ENST00000435174.1_5'UTR|EZH1_ENST00000585893.1_Missense_Mutation_p.Q33K|EZH1_ENST00000415827.2_Missense_Mutation_p.Q33K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	33					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.Q33K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ATATTTGCCTGAAGCCGTTTA	0.348																																						uc002iaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(97-99)CAG>AAG		enhancer of zeste homolog 1							137.0	136.0	136.0					17																	40880863		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40880863G>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.97C>A	17.37:g.40880863G>T	ENSP00000404658:p.Gln33Lys					EZH1_uc002iba.2_Missense_Mutation_p.Q33K|EZH1_uc010wgt.1_Intron|EZH1_uc010wgu.1_Missense_Mutation_p.Q39K|EZH1_uc010wgv.1_Missense_Mutation_p.Q33K|EZH1_uc010wgw.1_5'UTR|EZH1_uc010cyp.2_5'UTR|EZH1_uc010cyq.2_Missense_Mutation_p.Q33K|EZH1_uc010cys.2_Missense_Mutation_p.Q33K	p.Q33K	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	3	242	-		Breast(137;0.00104)	33					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.97C>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937970	0.18206	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	T;T	0.79141	-1.24;-1.24	4.94	4.94	0.65067	.	0.102365	0.64402	D	0.000002	T	0.58722	0.2142	N	0.11560	0.145	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.57359	-0.7825	10	0.02654	T	1	.	18.3028	0.90169	0.0:0.0:1.0:0.0	.	33;39;33	Q92800-3;Q92800-2;Q92800	.;.;EZH1_HUMAN	K	36;33;33	ENSP00000404658:Q33K;ENSP00000407869:Q33K	ENSP00000264646:Q36K	Q	-	1	0	EZH1	38134389	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.727000	0.68523	2.727000	0.93392	0.544000	0.68410	CAG		PASS	0.348	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		166	48	166	48	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42477692	42477692	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:42477692T>C	ENST00000591680.1	-	8	1783	c.1753A>G	c.(1753-1755)Aga>Gga	p.R585G	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R507G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	585							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R585G(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTTAGTTCTGGCATCTTTG	0.403											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1753-1755)AGA>GGA		G patch domain containing 8							40.0	44.0	42.0					17																	42477692		2202	4298	6500	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477692T>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1753A>G	17.37:g.42477692T>C	ENSP00000467556:p.Arg585Gly		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Missense_Mutation_p.R507G|GPATCH8_uc010wiz.1_Missense_Mutation_p.R507G	p.R585G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1817	-		Prostate(33;0.0181)	585					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1753A>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776258	0.31411	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12255	2.7	5.21	5.21	0.72293	.	0.367956	0.30519	N	0.009450	T	0.11707	0.0285	N	0.24115	0.695	0.25005	N	0.991442	B	0.16166	0.016	B	0.16722	0.016	T	0.18178	-1.0345	10	0.62326	D	0.03	-8.2895	15.2491	0.73529	0.0:0.0:0.0:1.0	.	585	Q9UKJ3	GPTC8_HUMAN	G	585;507	ENSP00000395016:R507G	ENSP00000335486:R585G	R	-	1	2	GPATCH8	39833218	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	5.849000	0.69465	2.193000	0.70182	0.402000	0.26972	AGA		PASS	0.403	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		15	179	15	179	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51900535	51900535	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:51900535G>T	ENST00000268919.4	+	1	297	c.141G>T	c.(139-141)acG>acT	p.T47T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T47T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGTGGTCACGGAGATCAACA	0.527																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(139-141)ACG>ACT		kinesin family member 2B							151.0	124.0	133.0					17																	51900535		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900535G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.141G>T	17.37:g.51900535G>T							p.T47T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	297	+			47					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.141G>T	CCDS32685.1																																																																																				PASS	0.527	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		149	61	149	61	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902274	51902274	+	Missense_Mutation	SNP	C	C	G	rs551246333		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:51902274C>G	ENST00000268919.4	+	1	2036	c.1880C>G	c.(1879-1881)gCt>gGt	p.A627G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	627					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A627D(1)|p.A627G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGAGAGAGCTGGTGGAGTA	0.438																																						uc002iua.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)	8						c.(1879-1881)GCT>GGT		kinesin family member 2B							171.0	156.0	161.0					17																	51902274		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902274C>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1880C>G	17.37:g.51902274C>G	ENSP00000268919:p.Ala627Gly					uc010wna.1_RNA	p.A627G	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2036	+			627					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1880C>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173392	0.06421	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75367	-0.93	5.65	3.63	0.41609	.	0.345102	0.20585	N	0.089459	T	0.61527	0.2354	N	0.24115	0.695	0.09310	N	1	B	0.23540	0.087	B	0.28385	0.089	T	0.57093	-0.7870	10	0.72032	D	0.01	.	9.8671	0.41150	0.0:0.8238:0.0:0.1762	.	627	Q8N4N8	KIF2B_HUMAN	G	627;515	ENSP00000268919:A627G	ENSP00000268919:A627G	A	+	2	0	KIF2B	49257273	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.253000	0.32886	0.793000	0.33875	0.655000	0.94253	GCT		PASS	0.438	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		179	38	179	38	---	---	---	---
YPEL2	388403	broad.mit.edu	37	17	57430779	57430779	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:57430779G>C	ENST00000312655.4	+	2	327	c.9G>C	c.(7-9)aaG>aaC	p.K3N	YPEL2_ENST00000585166.1_Missense_Mutation_p.K3N|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	3						nucleus (GO:0005634)		p.K3N(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CAATGGTGAAGATGACAAGAT	0.552																																					Melanoma(86;1113 1364 8518 42220 42625)	uc002ixm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)AAG>AAC		yippee-like 2							130.0	108.0	115.0					17																	57430779		2203	4300	6503	SO:0001583	missense	388403					nucleolus		g.chr17:57430779G>C	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.9G>C	17.37:g.57430779G>C	ENSP00000312272:p.Lys3Asn					YPEL2_uc002ixl.1_Missense_Mutation_p.K3N	p.K3N	NM_001005404	NP_001005404	Q96QA6	YPEL2_HUMAN			2	337	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		3					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	c.9G>C	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835506	0.50951	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.93	5.93	0.95920	.	0.047885	0.85682	D	0.000000	T	0.38081	0.1027	N	0.14661	0.345	0.39147	D	0.962154	P	0.36065	0.535	B	0.37346	0.247	T	0.42699	-0.9436	9	0.54805	T	0.06	-9.4914	12.612	0.56556	0.0749:0.0:0.925:0.0	.	3	Q96QA6	YPEL2_HUMAN	N	3	.	ENSP00000312272:K3N	K	+	3	2	YPEL2	54785561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.028000	0.57246	2.805000	0.96524	0.655000	0.94253	AAG		PASS	0.552	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		24	173	24	173	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	64179375	64179375	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:64179375C>A	ENST00000392769.2	-	2	261	c.43G>T	c.(43-45)Gca>Tca	p.A15S	CEP112_ENST00000535342.2_Missense_Mutation_p.A15S|CEP112_ENST00000537949.1_Missense_Mutation_p.A15S	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	15					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.A15S(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCAAATTCTGCATCCAGCTTC	0.313																																						uc002jfl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(43-45)GCA>TCA		coiled-coil domain containing 46 isoform a							124.0	125.0	124.0					17																	64179375		2203	4299	6502	SO:0001583	missense	201134					centrosome		g.chr17:64179375C>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.43G>T	17.37:g.64179375C>A	ENSP00000376522:p.Ala15Ser					CCDC46_uc002jfm.2_Missense_Mutation_p.A15S|CCDC46_uc010dep.2_Missense_Mutation_p.A15S	p.A15S	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		2	262	-			15					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.43G>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862657	0.32884	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42513	0.98;0.98;0.97	4.85	4.85	0.62838	.	0.254818	0.32314	N	0.006277	T	0.41050	0.1142	L	0.46741	1.465	0.80722	D	1	B;B	0.32573	0.376;0.376	B;B	0.37387	0.135;0.248	T	0.23976	-1.0173	10	0.28530	T	0.3	-12.5718	15.7466	0.77949	0.0:1.0:0.0:0.0	.	15;15	F5GYE8;Q8N8E3	.;CE112_HUMAN	S	15	ENSP00000442784:A15S;ENSP00000376522:A15S;ENSP00000440775:A15S	ENSP00000376522:A15S	A	-	1	0	CEP112	61609837	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.183000	0.32041	2.221000	0.72209	0.484000	0.47621	GCA		PASS	0.313	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		106	39	106	39	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66979855	66979855	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:66979855C>A	ENST00000340001.4	-	36	4846	c.4635G>T	c.(4633-4635)caG>caT	p.Q1545H	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1507H|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1545					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1545H(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)					TCTACCTTTCCTGCTGAGCAG	0.458																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4633-4635)CAG>CAT		ATP-binding cassette, sub-family A, member 9							100.0	97.0	98.0					17																	66979855		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979855C>A	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.4635G>T	17.37:g.66979855C>A	ENSP00000342216:p.Gln1545His					ABCA9_uc010dez.2_Missense_Mutation_p.Q1507H	p.Q1545H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			36	4778	-	Breast(10;1.47e-12)		1545					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4635G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480998	0.63849	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.82526	-1.62	4.91	2.88	0.33553	.	0.157917	0.29486	N	0.012018	D	0.90459	0.7012	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91119	0.4928	10	0.87932	D	0	.	11.1729	0.48582	0.0:0.8395:0.0:0.1605	.	1545	Q8IUA7	ABCA9_HUMAN	H	1545;1490	ENSP00000342216:Q1545H	ENSP00000342216:Q1545H	Q	-	3	2	ABCA9	64491450	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.316000	0.33620	1.210000	0.43336	0.655000	0.94253	CAG		PASS	0.458	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		181	38	181	38	---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72436967	72436967	+	Splice_Site	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:72436967G>T	ENST00000392627.1	+	2	2312		c.e2+1		GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Splice_Site|GPRC5C_ENST00000392629.2_Splice_Site	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C						G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.?(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CCGGTTGCAGGTGGGTCTCTG	0.552																																						uc002jks.2																			2	Unknown(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.e1+1		G protein-coupled receptor family C, group 5,							73.0	70.0	71.0					17																	72436967		2203	4300	6503	SO:0001630	splice_region_variant	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436967G>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1186+1G>T	17.37:g.72436967G>T						GPRC5C_uc002jkp.2_Splice_Site_p.A396_splice|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Splice_Site_p.A363_splice|GPRC5C_uc002jkt.2_Splice_Site_p.A351_splice|GPRC5C_uc002jku.2_5'Flank	p.A351_splice	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			1	1090	+								B5BUN4|Q2NL85|Q9NZG5	Splice_Site	SNP	ENST00000392627.1	37	c.1051_splice	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155032	0.38021	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2364	0.87000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPRC5C	69948562	1.000000	0.71417	0.990000	0.47175	0.395000	0.30598	7.140000	0.77322	2.549000	0.85964	0.561000	0.74099	.		PASS	0.552	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2		Intron	14	189	14	189	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72860983	72860983	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr17:72860983C>A	ENST00000293195.5	-	7	758	c.680G>T	c.(679-681)gGc>gTc	p.G227V	FDXR_ENST00000582944.1_Missense_Mutation_p.G219V|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000442102.2_Missense_Mutation_p.G270V|FDXR_ENST00000455107.2_Missense_Mutation_p.G183V|FDXR_ENST00000583917.1_Missense_Mutation_p.G228V|FDXR_ENST00000420580.2_Missense_Mutation_p.G187V|FDXR_ENST00000413947.2_Missense_Mutation_p.G258V|FDXR_ENST00000544854.1_Missense_Mutation_p.G175V|FDXR_ENST00000581530.1_Missense_Mutation_p.G233V	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	227					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.G233V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TCCACGCCGGCCCACTAGCCA	0.612											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jly.2																			2	Substitution - Missense(2)		lung(2)		0						c.(679-681)GGC>GTC		ferredoxin reductase isoform 1 precursor							88.0	77.0	81.0					17																	72860983		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860983C>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.680G>T	17.37:g.72860983C>A	ENSP00000293195:p.Gly227Val		OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FDXR_uc010wri.1_Missense_Mutation_p.G175V|FDXR_uc010wrj.1_Missense_Mutation_p.G225V|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.G233V|FDXR_uc002jmc.2_Missense_Mutation_p.G228V|FDXR_uc010wrk.1_Missense_Mutation_p.G258V|FDXR_uc010wrl.1_Missense_Mutation_p.G270V|FDXR_uc002jma.2_Missense_Mutation_p.G228V|FDXR_uc010wrm.1_Missense_Mutation_p.G187V|FDXR_uc002jlz.2_Missense_Mutation_p.G219V|FDXR_uc002jmb.2_RNA	p.G227V	NM_024417	NP_077728	P22570	ADRO_HUMAN			7	767	-	all_lung(278;0.172)|Lung NSC(278;0.207)		227					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.680G>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	c	32	5.146924	0.94603	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0	D	0.90962	0.4813	10	0.87932	D	0	-7.2675	19.2505	0.93923	0.0:1.0:0.0:0.0	.	187;270;258;225;175;258;227;219;227;233	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	V	187;175;233;183;270;258	ENSP00000414172:G187V;ENSP00000445432:G175V;ENSP00000390875:G183V;ENSP00000416515:G270V;ENSP00000408595:G258V	ENSP00000293195:G233V	G	-	2	0	FDXR	70372578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.655000	0.90218	0.556000	0.70494	GGC		PASS	0.612	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		9	207	9	207	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	348087	348087	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:348087C>G	ENST00000400256.3	-	4	465	c.258G>C	c.(256-258)gtG>gtC	p.V86V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	86					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.V86V(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)				GGTCACTTTCCACTGCTGTGA	0.393																																						uc002kkm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(256-258)GTG>GTC		collectin sub-family member 12							232.0	184.0	200.0					18																	348087		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:348087C>G	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.258G>C	18.37:g.348087C>G							p.V86V	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			4	473	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	86			Potential.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.258G>C	CCDS32782.1																																																																																				PASS	0.393	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			41	113	41	113	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6999568	6999568	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:6999568C>A	ENST00000389658.3	-	32	4632	c.4539G>T	c.(4537-4539)ccG>ccT	p.P1513P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1513	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.			P -> R (in Ref. 1). {ECO:0000305}.	axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P1513P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGAGCCGTGCGGGTTGCAGT	0.592																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(4537-4539)CCG>CCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	50.0	55.0					18																	6999568		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999568C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4539G>T	18.37:g.6999568C>A						LAMA1_uc010wzj.1_Silent_p.P989P	p.P1513P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			32	4633	-		Colorectal(10;0.172)	1513	P -> R (in Ref. 1).		Laminin EGF-like 17.			Silent	SNP	ENST00000389658.3	37	c.4539G>T	CCDS32787.1																																																																																				PASS	0.592	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		22	45	22	45	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13048935	13048935	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:13048935C>T	ENST00000325971.8	+	14	1950	c.357C>T	c.(355-357)atC>atT	p.I119I	CEP192_ENST00000506447.1_Silent_p.I715I|CEP192_ENST00000430049.2_Silent_p.I240I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	119					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.I119I(1)|p.I715I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTTAGGATCAGCACCATTG	0.403																																						uc010xac.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2143-2145)ATC>ATT		centrosomal protein 192kDa							75.0	75.0	75.0					18																	13048935		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13048935C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.357C>T	18.37:g.13048935C>T						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.I240I|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Silent_p.I456I	p.I715I	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			16	2225	+			715					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.2145C>T																																																																																					PASS	0.403	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		60	146	60	146	---	---	---	---
NPC1	4864	broad.mit.edu	37	18	21125076	21125076	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:21125076G>C	ENST00000269228.5	-	12	2349	c.1795C>G	c.(1795-1797)Ctg>Gtg	p.L599V	NPC1_ENST00000412552.2_Missense_Mutation_p.L281V|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	599					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.L599V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAATGGTCAGATTGGGATTC	0.328																																						uc002kum.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1795-1797)CTG>GTG		Niemann-Pick disease, type C1 precursor							89.0	83.0	85.0					18																	21125076		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21125076G>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1795C>G	18.37:g.21125076G>C	ENSP00000269228:p.Leu599Val					NPC1_uc010xaz.1_Missense_Mutation_p.L332V|NPC1_uc010xba.1_Missense_Mutation_p.L444V	p.L599V	NM_000271	NP_000262	O15118	NPC1_HUMAN			12	2069	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		599					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1795C>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358970	0.41801	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.91124	-2.79;-2.79	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	N	0.14661	0.345	0.80722	D	1	P;P	0.42375	0.778;0.778	B;B	0.40602	0.334;0.248	D	0.83729	0.0197	10	0.72032	D	0.01	-20.8638	9.7619	0.40537	0.1951:0.0:0.8049:0.0	.	610;599	Q59GR1;O15118	.;NPC1_HUMAN	V	599;281;444	ENSP00000269228:L599V;ENSP00000408606:L281V	ENSP00000269228:L599V	L	-	1	2	NPC1	19379074	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	5.158000	0.64917	1.518000	0.48934	-0.145000	0.13849	CTG		PASS	0.328	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		7	157	7	157	---	---	---	---
RNF138	51444	broad.mit.edu	37	18	29703512	29703512	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:29703512A>G	ENST00000261593.3	+	5	882	c.424A>G	c.(424-426)Aca>Gca	p.T142A	RP11-53I6.4_ENST00000583138.1_RNA|RNF138_ENST00000257190.5_Missense_Mutation_p.T48A	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	142					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.T142A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGATAACACAGAAACTTA	0.308																																						uc002kxg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)ACA>GCA		ring finger protein 138 isoform 1							77.0	82.0	80.0					18																	29703512		2203	4300	6503	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29703512A>G	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.424A>G	18.37:g.29703512A>G	ENSP00000261593:p.Thr142Ala					RNF138_uc002kxh.2_Missense_Mutation_p.T48A	p.T142A	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN			5	863	+			142					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.424A>G	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944404	0.18356	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.87029	-2.2	5.37	4.19	0.49359	.	1.253420	0.05449	N	0.549102	T	0.81173	0.4767	L	0.36672	1.1	0.27148	N	0.961498	P;B	0.35872	0.525;0.0	B;B	0.32980	0.156;0.0	T	0.65479	-0.6158	10	0.15499	T	0.54	-20.2398	9.6056	0.39632	0.8237:0.1763:0.0:0.0	.	48;142	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	A	142;48	ENSP00000261593:T142A	ENSP00000257190:T48A	T	+	1	0	RNF138	27957510	1.000000	0.71417	0.995000	0.50966	0.478000	0.33099	2.207000	0.42788	0.962000	0.38057	-0.316000	0.08728	ACA		PASS	0.308	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		11	90	11	90	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47801364	47801364	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:47801364C>T	ENST00000591416.1	-	10	1392	c.961G>A	c.(961-963)Gta>Ata	p.V321I	MBD1_ENST00000457839.2_Missense_Mutation_p.V346I|MBD1_ENST00000347968.3_Missense_Mutation_p.V321I|MBD1_ENST00000398488.1_Missense_Mutation_p.V321I|MBD1_ENST00000339998.6_Missense_Mutation_p.V321I|MBD1_ENST00000398495.2_Missense_Mutation_p.V346I|MBD1_ENST00000424334.2_Missense_Mutation_p.V372I|MBD1_ENST00000349085.2_Missense_Mutation_p.V321I|MBD1_ENST00000398493.1_Missense_Mutation_p.V321I|MBD1_ENST00000353909.3_Missense_Mutation_p.V272I|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.V321I|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.V321I|MBD1_ENST00000587605.1_Missense_Mutation_p.V321I|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.V321I|MBD1_ENST00000585672.1_Missense_Mutation_p.V272I|MBD1_ENST00000585595.1_Missense_Mutation_p.V346I|MBD1_ENST00000591535.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	321					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V321I(2)|p.V346I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TCCTCGTCTACACAGTAATAG	0.567																																						uc010dow.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(961-963)GTA>ATA		methyl-CpG binding domain protein 1 isoform 1							51.0	50.0	50.0					18																	47801364		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47801364C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.961G>A	18.37:g.47801364C>T	ENSP00000467017:p.Val321Ile					MBD1_uc002lef.2_Missense_Mutation_p.V128I|MBD1_uc002leg.2_Missense_Mutation_p.V272I|MBD1_uc010xdi.1_Missense_Mutation_p.V372I|MBD1_uc002leh.3_Missense_Mutation_p.V321I|MBD1_uc002len.2_Missense_Mutation_p.V321I|MBD1_uc002lei.3_Missense_Mutation_p.V321I|MBD1_uc002lej.3_Missense_Mutation_p.V321I|MBD1_uc002lek.3_Missense_Mutation_p.V272I|MBD1_uc002lel.3_Intron|MBD1_uc002lem.3_Missense_Mutation_p.V321I|MBD1_uc010xdj.1_Missense_Mutation_p.V321I|MBD1_uc010xdk.1_Missense_Mutation_p.V346I|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Missense_Mutation_p.V321I	p.V321I	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			10	1398	-			321					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.961G>A	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774655	0.70107	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D	0.96716	-3.79;-3.8;-4.1;-3.79;-4.08;-3.82;-3.78;-3.79;-4.08;-4.1	4.51	4.51	0.55191	.	0.123863	0.36482	N	0.002563	D	0.95611	0.8573	L	0.27053	0.805	0.09310	N	0.999992	D;D;D;D;D;D;D;D;D;D	0.76494	0.995;0.974;0.996;0.998;0.983;0.959;0.996;0.999;0.968;0.999	D;D;D;D;P;D;D;D;P;D	0.80764	0.985;0.946;0.986;0.994;0.893;0.949;0.986;0.994;0.704;0.994	D	0.88608	0.3154	10	0.21014	T	0.42	-8.9248	13.0265	0.58819	0.0:1.0:0.0:0.0	.	321;372;321;321;272;321;321;321;346;321	B4DUR3;B4DI41;A8K654;Q9UIS9-6;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;MBD1_HUMAN;.;.;.	I	321;272;321;321;321;372;321;321;346;321;321	ENSP00000372407:V321I;ENSP00000269469:V272I;ENSP00000342531:V321I;ENSP00000269468:V321I;ENSP00000285102:V321I;ENSP00000408846:V372I;ENSP00000339546:V321I;ENSP00000405268:V346I;ENSP00000381506:V321I;ENSP00000381502:V321I	ENSP00000269468:V321I	V	-	1	0	MBD1	46055362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.146000	0.42216	2.783000	0.95769	0.655000	0.94253	GTA		PASS	0.567	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		25	136	25	136	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55319349	55319349	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:55319349C>T	ENST00000283684.4	-	25	3316	c.3317G>A	c.(3316-3318)aGc>aAc	p.S1106N	ATP8B1_ENST00000536015.1_Missense_Mutation_p.S1106N|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1106					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1106N(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAGTGCAATGCTTCCAAAAAT	0.358																																						uc002lgw.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(3316-3318)AGC>AAC		ATPase, class I, type 8B, member 1							82.0	76.0	78.0					18																	55319349		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55319349C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3317G>A	18.37:g.55319349C>T	ENSP00000283684:p.Ser1106Asn					uc002lgu.1_Intron|uc002lgv.1_Intron	p.S1106N	NM_005603	NP_005594	O43520	AT8B1_HUMAN			25	3317	-		Colorectal(73;0.229)	1106			Helical; (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3317G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007001	0.93287	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.63255	-0.03;-0.03	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84252	0.5431	M	0.90870	3.155	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.87253	0.2274	10	0.87932	D	0	.	19.3909	0.94583	0.0:1.0:0.0:0.0	.	1106	O43520	AT8B1_HUMAN	N	1106	ENSP00000283684:S1106N;ENSP00000445359:S1106N	ENSP00000283684:S1106N	S	-	2	0	ATP8B1	53470347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.669000	0.90835	0.563000	0.77884	AGC		PASS	0.358	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		40	72	40	72	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753205	76753205	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr18:76753205C>T	ENST00000537592.2	+	2	1214	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	SALL3_ENST00000536229.3_Missense_Mutation_p.S272L|SALL3_ENST00000575389.2_Missense_Mutation_p.S405L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	405					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S405L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAATGTGTCGGTGTTCGAG	0.647																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1213-1215)TCG>TTG		sal-like 3							22.0	18.0	19.0					18																	76753205		2200	4298	6498	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753205C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1214C>T	18.37:g.76753205C>T	ENSP00000441823:p.Ser405Leu					SALL3_uc010dra.2_Missense_Mutation_p.S12L	p.S405L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1214	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	405					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1214C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361995	0.41902	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11930	2.73	4.54	4.54	0.55810	.	0.000000	0.48286	D	0.000184	T	0.41259	0.1151	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.968;1.0	B;D	0.80764	0.358;0.994	T	0.37430	-0.9706	10	0.41790	T	0.15	-25.9806	17.489	0.87698	0.0:1.0:0.0:0.0	.	137;405	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	405;405;137	ENSP00000441823:S405L	ENSP00000299466:S405L	S	+	2	0	SALL3	74854193	1.000000	0.71417	0.933000	0.37362	0.755000	0.42902	5.845000	0.69437	2.352000	0.79861	0.460000	0.39030	TCG		PASS	0.647	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		10	52	10	52	---	---	---	---
SIRT6	51548	broad.mit.edu	37	19	4179132	4179132	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:4179132C>T	ENST00000337491.2	-	3	410	c.346G>A	c.(346-348)Gac>Aac	p.D116N	SIRT6_ENST00000601488.1_Intron|SIRT6_ENST00000594279.1_Missense_Mutation_p.D44N|SIRT6_ENST00000381935.3_Missense_Mutation_p.D44N|SIRT6_ENST00000305232.6_Missense_Mutation_p.D116N	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	116	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)	p.D116N(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCCCGTCCACGTTCTGG	0.657																																						uc002lzo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)GAC>AAC		sirtuin 6							25.0	23.0	24.0					19																	4179132		2203	4300	6503	SO:0001583	missense	51548				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr19:4179132C>T	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.346G>A	19.37:g.4179132C>T	ENSP00000337332:p.Asp116Asn					SIRT6_uc002lzn.2_Missense_Mutation_p.D44N|SIRT6_uc002lzp.2_Intron|SIRT6_uc010xid.1_Missense_Mutation_p.D44N|SIRT6_uc002lzq.2_Missense_Mutation_p.D116N|SIRT6_uc002lzr.2_Missense_Mutation_p.D44N	p.D116N	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	3	406	-		Hepatocellular(1079;0.137)	116			NAD (By similarity).|Deacetylase sirtuin-type.		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	c.346G>A	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911063	0.92178	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.57107	0.42;0.42;0.42	4.97	4.97	0.65823	.	0.152745	0.56097	D	0.000027	D	0.85932	0.5812	H	0.99890	4.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.92674	0.6152	10	0.87932	D	0	-20.8642	15.7185	0.77688	0.0:1.0:0.0:0.0	.	116;116;44	Q8N6T7-2;Q8N6T7;B7Z5U1	.;SIRT6_HUMAN;.	N	116;116;44	ENSP00000337332:D116N;ENSP00000305310:D116N;ENSP00000371360:D44N	ENSP00000305310:D116N	D	-	1	0	SIRT6	4130132	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.215000	0.77966	2.317000	0.78254	0.555000	0.69702	GAC		PASS	0.657	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			19	12	19	12	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5131396	5131397	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:5131396_5131397AG>TT	ENST00000159111.4	+	12	1843_1844	c.1625_1626AG>TT	c.(1624-1626)cAG>cTT	p.Q542L	KDM4B_ENST00000536461.1_Missense_Mutation_p.Q576L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	542					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.Q542L(2)|p.Q542H(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCTTCAACCAGGAGCACGTGT	0.653																																						uc002mbq.3																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(1624-1626)CAG>CTG|c.(1624-1626)CAG>CAT		jumonji domain containing 2B																																				SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5131396A>T|g.chr19:5131397G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		Exception_encountered	19.37:g.5131396_5131397delinsTT	ENSP00000159111:p.Gln542Leu					KDM4B_uc010xim.1_Missense_Mutation_p.Q576L|KDM4B_uc002mbr.3_Missense_Mutation_p.Q300L|KDM4B_uc010xim.1_Missense_Mutation_p.Q576H|KDM4B_uc002mbr.3_Missense_Mutation_p.Q300H	p.Q542L|p.Q542H	NM_015015	NP_055830	O94953	KDM4B_HUMAN			12	1851|1852	+			542					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.1625A>T|c.1626G>T	CCDS12138.1																																																																																				PASS	0.653	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		63|62	25	62	25	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6495567	6495567	+	Missense_Mutation	SNP	C	C	T	rs373302095		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:6495567C>T	ENST00000264071.2	-	4	1314	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A315T			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	315					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A315T(1)									CGGAACACGGCGGCCACGGTC	0.647																																						uc002mfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(943-945)GCC>ACC		tubulin, beta 4		C	THR/ALA	0,4406		0,0,2203	90.0	80.0	84.0		943	3.5	1.0	19		84	1,8599		0,1,4299	no	missense	TUBB4	NM_006087.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	315/445	6495567	1,13005	2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495567C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.943G>A	19.37:g.6495567C>T	ENSP00000264071:p.Ala315Thr					TUBB4_uc002mff.1_Missense_Mutation_p.A243T|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.A315T	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1050	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	315					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.943G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180492	0.38511	0.0	1.16E-4	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84223	-1.82;-1.82	3.54	3.54	0.40534	.	0.000000	0.64402	D	0.000002	T	0.81221	0.4777	L	0.43554	1.36	0.54753	D	0.999983	B	0.19331	0.035	B	0.25987	0.065	T	0.80507	-0.1352	10	0.87932	D	0	.	13.9263	0.63964	0.0:1.0:0.0:0.0	.	315	P04350	TBB4A_HUMAN	T	315;315;233	ENSP00000264071:A315T;ENSP00000443590:A315T	ENSP00000264071:A315T	A	-	1	0	TUBB4	6446567	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	4.789000	0.62446	1.548000	0.49413	0.306000	0.20318	GCC		PASS	0.647	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		5	164	5	164	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8136935	8136935	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:8136935G>A	ENST00000600128.1	-	63	8499	c.8085C>T	c.(8083-8085)caC>caT	p.H2695H	FBN3_ENST00000270509.2_Silent_p.H2695H|FBN3_ENST00000601739.1_Silent_p.H2695H			Q75N90	FBN3_HUMAN	fibrillin 3	2695						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H2695H(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGTCACCTGGTGGTCCCTGT	0.617																																						uc002mjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8083-8085)CAC>CAT		fibrillin 3 precursor							111.0	94.0	100.0					19																	8136935		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8136935G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8085C>T	19.37:g.8136935G>A						FBN3_uc002mje.2_Silent_p.H491H	p.H2695H	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			62	8106	-			2695					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8085C>T	CCDS12196.1																																																																																				PASS	0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		193	88	193	88	---	---	---	---
OR7G2	390882	broad.mit.edu	37	19	9213755	9213755	+	Silent	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:9213755G>T	ENST00000305456.2	-	1	227	c.228C>A	c.(226-228)ctC>ctA	p.L76L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L76L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TGGGGGTGTGGAGGTGAGAGT	0.502																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(226-228)CTC>CTA		olfactory receptor, family 7, subfamily G,							132.0	119.0	123.0					19																	9213755		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213755G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.228C>A	19.37:g.9213755G>T							p.L76L	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	228	-			55			Helical; Name=2; (Potential).		Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.228C>A	CCDS32897.1																																																																																				PASS	0.502	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			65	52	65	52	---	---	---	---
OR10H1	26539	broad.mit.edu	37	19	15918646	15918646	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:15918646C>T	ENST00000334920.2	-	1	290	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V68I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ATCTCGGAGACGGAGAGGGCG	0.642																																						uc002nbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GTC>ATC		olfactory receptor, family 10, subfamily H,							100.0	90.0	94.0					19																	15918646		2194	4278	6472	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918646C>T	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.202G>A	19.37:g.15918646C>T	ENSP00000335596:p.Val68Ile						p.V68I	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	291	-			68			Helical; Name=2; (Potential).		Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.202G>A	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.512027	0.00153	.	.	ENSG00000186723	ENST00000334920	T	0.00551	6.65	4.47	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	0.635963	0.13822	N	0.360341	T	0.00271	0.0008	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38067	-0.9678	10	0.15952	T	0.53	.	2.6183	0.04909	0.1241:0.3772:0.1264:0.3723	.	68	Q9Y4A9	O10H1_HUMAN	I	68	ENSP00000335596:V68I	ENSP00000335596:V68I	V	-	1	0	OR10H1	15779646	0.000000	0.05858	0.280000	0.24747	0.077000	0.17291	-4.971000	0.00164	-0.854000	0.04131	-1.703000	0.00720	GTC		PASS	0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			174	54	174	54	---	---	---	---
KLF2	10365	broad.mit.edu	37	19	16437684	16437684	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:16437684T>C	ENST00000248071.5	+	3	1017	c.910T>C	c.(910-912)Tgc>Cgc	p.C304R	CTD-2562J15.6_ENST00000588799.1_RNA|KLF2_ENST00000592003.1_Silent_p.T31T	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	304					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|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)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C304R(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						GCCCTACCACTGCAACTGGGA	0.647																																						uc002ndw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)TGC>CGC		Kruppel-like factor							44.0	43.0	43.0					19																	16437684		2203	4300	6503	SO:0001583	missense	10365				positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:16437684T>C	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6347	protein-coding gene	gene with protein product		602016	"""Kruppel-like factor 2 (lung)"""			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.910T>C	19.37:g.16437684T>C	ENSP00000248071:p.Cys304Arg						p.C304R	NM_016270	NP_057354	Q9Y5W3	KLF2_HUMAN			3	994	+			304			C2H2-type 2.		Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	c.910T>C	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627406	0.66901	.	.	ENSG00000127528	ENST00000248071	D	0.85258	-1.96	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94437	0.8210	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95761	0.8800	9	0.87932	D	0	.	13.1268	0.59360	0.0:0.0:0.0:1.0	.	304	Q9Y5W3	KLF2_HUMAN	R	304	ENSP00000248071:C304R	ENSP00000248071:C304R	C	+	1	0	KLF2	16298684	1.000000	0.71417	0.997000	0.53966	0.404000	0.30871	7.801000	0.85960	1.773000	0.52216	0.383000	0.25322	TGC		PASS	0.647	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			33	19	33	19	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154271	22154271	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:22154271C>A	ENST00000397126.4	-	4	3713	c.3565G>T	c.(3565-3567)Gta>Tta	p.V1189L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V1061L(2)|p.V1189L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTATGAATTACCTTATGTTTT	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(3181-3183)GTA>TTA		zinc finger protein 208							32.0	34.0	33.0					19																	22154271		2094	4234	6328	SO:0001583	missense	7757							g.chr19:22154271C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3565G>T	19.37:g.22154271C>A	ENSP00000380315:p.Val1189Leu					ZNF208_uc002nqo.1_Intron	p.V1061L	NM_007153	NP_009084					6	3330	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3181G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	8.899	0.955866	0.18507	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17370	2.28	3.24	-0.758	0.11049	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25779	-1.0122	8	0.59425	D	0.04	.	5.7559	0.18172	0.166:0.1047:0.0:0.7293	.	1061	O43345	ZN208_HUMAN	L	1189;1061	ENSP00000380315:V1189L	ENSP00000380315:V1189L	V	-	1	0	ZNF208	21946111	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-9.179000	0.00013	-1.116000	0.02969	-1.031000	0.02408	GTA		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		53	54	53	54	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940877	22940877	+	Missense_Mutation	SNP	G	G	T	rs74455660		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:22940877G>T	ENST00000596209.1	-	4	1924	c.1834C>A	c.(1834-1836)Cag>Aag	p.Q612K	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q521K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	612					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.Q521K(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)				TGAATTATCTGATGTTTTCTA	0.378																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1561-1563)CAG>AAG		zinc finger protein 99		G	LYS/GLN	0,3932		0,0,1966	35.0	40.0	38.0		1561	-2.3	0.0	19	dbSNP_131	38	1,8385		0,1,4192	no	missense	ZNF99	NM_001080409.2	53	0,1,6158	TT,TG,GG		0.0119,0.0,0.0081	benign	521/912	22940877	1,12317	1966	4193	6159	SO:0001583	missense	7652							g.chr19:22940877G>T	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.1834C>A	19.37:g.22940877G>T	ENSP00000472969:p.Gln612Lys						p.Q521K	NM_001080409	NP_001073878					5	1561	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1561C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.470556	0.01044	0.0	1.19E-4	ENSG00000213973	ENST00000397104	T	0.24151	1.87	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.25957	0.775	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17137	-1.0379	9	0.20519	T	0.43	.	2.1045	0.03688	0.2443:0.128:0.456:0.1717	.	521	A8MXY4	ZNF99_HUMAN	K	521	ENSP00000380293:Q521K	ENSP00000380293:Q521K	Q	-	1	0	ZNF99	22732717	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.998000	0.00317	-4.672000	0.00037	-3.580000	0.00029	CAG		PASS	0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	404	6	404	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934951	30934951	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:30934951C>G	ENST00000355537.3	+	2	629	c.482C>G	c.(481-483)cCg>cGg	p.P161R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	161					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P161R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCAAGTGCCCGTACTGCGAC	0.657																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(481-483)CCG>CGG		zinc finger protein 536							45.0	40.0	42.0					19																	30934951		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934951C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.482C>G	19.37:g.30934951C>G	ENSP00000347730:p.Pro161Arg					ZNF536_uc010edd.1_Missense_Mutation_p.P161R	p.P161R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	620	+	Esophageal squamous(110;0.0834)		161			C2H2-type 2.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.482C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204343	0.58234	.	.	ENSG00000198597	ENST00000355537	T	0.03468	3.92	5.67	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053684	0.85682	D	0.000000	T	0.10465	0.0256	L	0.28776	0.89	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.97110	0.98;1.0	T	0.12091	-1.0561	10	0.52906	T	0.07	-30.5506	14.4832	0.67597	0.0:0.9295:0.0:0.0705	.	161;161	A7E228;O15090	.;ZN536_HUMAN	R	161	ENSP00000347730:P161R	ENSP00000347730:P161R	P	+	2	0	ZNF536	35626791	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.811000	0.86092	1.401000	0.46761	0.462000	0.41574	CCG		PASS	0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		58	116	58	116	---	---	---	---
ZNF570	148268	broad.mit.edu	37	19	37975309	37975309	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:37975309T>C	ENST00000330173.1	+	5	1314	c.785T>C	c.(784-786)gTt>gCt	p.V262A	ZNF570_ENST00000586475.1_Missense_Mutation_p.V318A|ZNF570_ENST00000388801.3_Missense_Mutation_p.V59A	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	262					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.V262A(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATCTTGTTCAACATCAG	0.398																																						uc002ogk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)GTT>GCT		zinc finger protein 570							62.0	68.0	66.0					19																	37975309		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975309T>C	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.785T>C	19.37:g.37975309T>C	ENSP00000331540:p.Val262Ala					ZNF570_uc010efl.1_Missense_Mutation_p.V318A|ZNF570_uc010xtr.1_Missense_Mutation_p.V59A	p.V262A	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1314	+			262			C2H2-type 2.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.785T>C	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	T	1.960	-0.439062	0.04636	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.37235	1.21;1.21	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.351570	0.05252	N	0.514207	T	0.23094	0.0558	N	0.05124	-0.11	0.23287	N	0.997979	B;B	0.06786	0.001;0.001	B;B	0.15052	0.009;0.012	T	0.10042	-1.0647	10	0.17832	T	0.49	.	13.2123	0.59832	0.0:0.0:0.0:1.0	.	59;262	B4DMP1;Q96NI8	.;ZN570_HUMAN	A	262;59	ENSP00000331540:V262A;ENSP00000373453:V59A	ENSP00000331540:V262A	V	+	2	0	ZNF570	42667149	0.000000	0.05858	1.000000	0.80357	0.847000	0.48162	0.229000	0.17833	1.951000	0.56629	0.460000	0.39030	GTT		PASS	0.398	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		25	286	25	286	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38964024	38964024	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:38964024G>T	ENST00000359596.3	+	28	3773	c.3773G>T	c.(3772-3774)cGa>cTa	p.R1258L	RYR1_ENST00000360985.3_Missense_Mutation_p.R1258L|RYR1_ENST00000355481.4_Missense_Mutation_p.R1258L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1258	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1258L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGGTATCCCGAGTGGACGGC	0.662																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3772-3774)CGA>CTA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						51.0	55.0	54.0					19																	38964024		2203	4299	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38964024G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3773G>T	19.37:g.38964024G>T	ENSP00000352608:p.Arg1258Leu					RYR1_uc002oiu.2_Missense_Mutation_p.R1258L	p.R1258L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	3903	+	all_cancers(60;7.91e-06)		1258			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3773G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944625	0.53079	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97665	-4.48;-4.48;-4.48	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000009	D	0.98068	0.9363	M	0.68952	2.095	0.51233	D	0.999914	D;D	0.89917	1.0;0.977	D;D	0.87578	0.998;0.923	D	0.99346	1.0913	10	0.87932	D	0	.	16.7661	0.85524	0.0:0.0:1.0:0.0	.	1258;1258	P21817-2;P21817	.;RYR1_HUMAN	L	1258	ENSP00000352608:R1258L;ENSP00000347667:R1258L;ENSP00000354254:R1258L	ENSP00000347667:R1258L	R	+	2	0	RYR1	43655864	0.997000	0.39634	0.994000	0.49952	0.380000	0.30137	7.056000	0.76662	2.242000	0.73789	0.462000	0.41574	CGA		PASS	0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			124	572	124	572	---	---	---	---
SARS2	54938	broad.mit.edu	37	19	39409109	39409109	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:39409109C>T	ENST00000221431.6	-	9	1028	c.869G>A	c.(868-870)cGc>cAc	p.R290H	SARS2_ENST00000600042.1_Missense_Mutation_p.R292H|SARS2_ENST00000594171.1_Missense_Mutation_p.R100H|SARS2_ENST00000430193.3_Missense_Mutation_p.R290H|CTC-360G5.8_ENST00000599996.1_Silent_p.P359P|SARS2_ENST00000448145.2_Missense_Mutation_p.R290H|SARS2_ENST00000598831.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	290					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.R290H(1)|p.R292H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATCTTTGAAGCGGGCAGGGTC	0.597																																						uc002oka.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(868-870)CGC>CAC		seryl-tRNA synthetase 2 isoform b precursor							148.0	131.0	137.0					19																	39409109		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39409109C>T	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.869G>A	19.37:g.39409109C>T	ENSP00000221431:p.Arg290His					SARS2_uc002ojz.2_Missense_Mutation_p.R100H|SARS2_uc010xup.1_Missense_Mutation_p.R292H|SARS2_uc002okb.2_Missense_Mutation_p.R290H|SARS2_uc010xuq.1_Missense_Mutation_p.R290H|SARS2_uc010xur.1_RNA	p.R290H	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		9	1029	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		290					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.869G>A	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	C	8.202	0.798320	0.16397	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.67698	-0.28;-0.28	4.47	3.43	0.39272	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.299563	0.32190	N	0.006460	T	0.50786	0.1636	L	0.31420	0.93	.	.	.	B;B;B;B	0.13594	0.003;0.008;0.003;0.002	B;B;B;B	0.10450	0.002;0.005;0.002;0.002	T	0.60172	-0.7315	9	0.87932	D	0	.	7.4922	0.27469	0.0:0.8037:0.0:0.1963	.	290;292;290;290	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	292;290;290	ENSP00000221431:R290H;ENSP00000399330:R290H	ENSP00000221431:R290H	R	-	2	0	FBXO17	44100949	0.983000	0.35010	1.000000	0.80357	0.089000	0.18198	1.257000	0.32932	2.040000	0.60383	0.305000	0.20034	CGC		PASS	0.597	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		17	397	17	397	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223450	44223450	+	Missense_Mutation	SNP	C	C	T	rs199780198		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:44223450C>T	ENST00000244314.5	+	2	939	c.740C>T	c.(739-741)tCg>tTg	p.S247L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	247						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.S247L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGCCTGCTGTCGCTCCCCGAC	0.657																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(739-741)TCG>TTG		immunity-related GTPase family, cinema							26.0	23.0	24.0					19																	44223450		2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223450C>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.740C>T	19.37:g.44223450C>T	ENSP00000244314:p.Ser247Leu						p.S247L	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	887	+		Prostate(69;0.0435)	247					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.740C>T	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684696	0.68157	.	.	ENSG00000124449	ENST00000244314	T	0.11385	2.78	5.62	3.41	0.39046	.	0.158529	0.39985	N	0.001201	T	0.11537	0.0281	L	0.36672	1.1	0.32955	D	0.520211	D	0.53462	0.96	B	0.43916	0.436	T	0.09122	-1.0689	10	0.52906	T	0.07	.	13.9823	0.64313	0.0:0.7101:0.2899:0.0	.	247	Q6NXR0	IIGP5_HUMAN	L	247	ENSP00000244314:S247L	ENSP00000244314:S247L	S	+	2	0	IRGC	48915290	0.981000	0.34729	0.966000	0.40874	0.865000	0.49528	4.160000	0.58164	0.672000	0.31204	0.655000	0.94253	TCG		PASS	0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		28	44	28	44	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44351978	44351978	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:44351978G>T	ENST00000324461.7	+	7	1522	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	ZNF283_ENST00000588797.1_Missense_Mutation_p.G270W	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	409					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.G409W(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAAGGAATGTGGGAAGGCTTT	0.373																																						uc002oxr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GGG>TGG		zinc finger protein 283							80.0	93.0	89.0					19																	44351978		2196	4298	6494	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351978G>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1225G>T	19.37:g.44351978G>T	ENSP00000327314:p.Gly409Trp					ZNF283_uc002oxp.3_Missense_Mutation_p.G270W	p.G409W	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	1493	+		Prostate(69;0.0352)	409			C2H2-type 8.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1225G>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089046	0.55968	.	.	ENSG00000167637	ENST00000324461	T	0.07800	3.16	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61013	-0.7148	9	0.72032	D	0.01	.	12.9838	0.58579	0.0:0.0:1.0:0.0	.	409	Q8N7M2	ZN283_HUMAN	W	409	ENSP00000327314:G409W	ENSP00000327314:G409W	G	+	1	0	ZNF283	49043818	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	3.049000	0.49869	1.626000	0.50381	0.462000	0.41574	GGG		PASS	0.373	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		60	174	60	174	---	---	---	---
BCL3	602	broad.mit.edu	37	19	45262824	45262824	+	Silent	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:45262824A>T	ENST00000164227.5	+	9	1561	c.1317A>T	c.(1315-1317)cgA>cgT	p.R439R		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	439	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R431R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGGTCCTCCGAGGCCCTGGCC	0.697			T	IGH@	CLL																																	uc010xxe.1				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1315-1317)CGA>CGT		B-cell CLL/lymphoma 3							47.0	57.0	54.0					19																	45262824		2203	4297	6500	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262824A>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1317A>T	19.37:g.45262824A>T							p.R439R	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1387	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	439			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1317A>T	CCDS12642.2																																																																																				PASS	0.697	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		86	262	86	262	---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46878998	46878998	+	Silent	SNP	C	C	T	rs144237776		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:46878998C>T	ENST00000012443.4	+	3	604	c.501C>T	c.(499-501)atC>atT	p.I167I	PPP5C_ENST00000391919.1_Silent_p.I61I	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	167					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.I167I(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CGCTGGACATCGAGAGCATGA	0.612																																						uc002pem.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|pancreas(1)	2						c.(499-501)ATC>ATT		protein phosphatase 5, catalytic subunit		C	,	0,4402		0,0,2201	34.0	29.0	30.0		501,501	-5.2	0.8	19	dbSNP_134	30	2,8594		0,2,4296	no	coding-synonymous,coding-synonymous	PPP5C	NM_001204284.1,NM_006247.3	,	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,	167/478,167/500	46878998	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46878998C>T		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.501C>T	19.37:g.46878998C>T						PPP5C_uc010xya.1_Silent_p.I34I|PPP5C_uc002pen.2_Silent_p.I167I	p.I167I	NM_006247	NP_006238	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	3	561	+		Ovarian(192;0.0731)|all_neural(266;0.196)	167					Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	c.501C>T	CCDS12684.1																																																																																				PASS	0.612	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		4	13	4	13	---	---	---	---
CTU1	90353	broad.mit.edu	37	19	51602334	51602334	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:51602334G>A	ENST00000421832.2	-	3	615	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1									p.R191W(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4						cgggccagccgccccgcgtcg	0.741																																						uc010eop.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CGG>TGG		ATP binding domain 3							3.0	4.0	4.0					19																	51602334		1689	3464	5153	SO:0001583	missense	90353				tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding	g.chr19:51602334G>A		CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"""ATP binding domain 3"", ""cytosolic thiouridylase subunit 1 homolog (S. pombe)"""	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.571C>T	19.37:g.51602334G>A	ENSP00000390011:p.Arg191Trp						p.R191W	NM_145232	NP_660275	Q7Z7A3	CTU1_HUMAN			3	636	-			191						Missense_Mutation	SNP	ENST00000421832.2	37	c.571C>T	CCDS12824.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.077798	0.76528	.	.	ENSG00000142544	ENST00000421832	T	0.19105	2.17	3.54	-0.148	0.13424	Rossmann-like alpha/beta/alpha sandwich fold (1);tRNA(Ile)-lysidine/2-thiocytidine synthase (1);	0.000000	0.64402	D	0.000001	T	0.46889	0.1416	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52358	-0.8586	10	0.87932	D	0	.	9.9669	0.41730	0.0:0.0:0.5319:0.4681	.	191	Q7Z7A3	CTU1_HUMAN	W	191	ENSP00000390011:R191W	ENSP00000390011:R191W	R	-	1	2	CTU1	56294146	1.000000	0.71417	0.785000	0.31869	0.947000	0.59692	3.150000	0.50662	0.195000	0.20347	0.400000	0.26472	CGG		PASS	0.741	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464292.1	NM_145232		6	6	6	6	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51920156	51920156	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:51920156C>T	ENST00000339313.5	-	3	586	c.470G>A	c.(469-471)gGg>gAg	p.G157E	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.G157E|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G157E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G157E|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	157	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G157E(1)		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)		CACCGGCTGCCCGGGCTCCAG	0.612																																						uc002pwo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(469-471)GGG>GAG		sialic acid binding Ig-like lectin 10 precursor							72.0	82.0	78.0					19																	51920156		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920156C>T	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.470G>A	19.37:g.51920156C>T	ENSP00000345243:p.Gly157Glu					SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Missense_Mutation_p.G157E|SIGLEC10_uc010ycy.1_Missense_Mutation_p.G157E|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Intron	p.G157E	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	1086	-		all_neural(266;0.0199)	157			Extracellular (Potential).|Ig-like C2-type 1.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.470G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	18.22	3.576412	0.65878	.	.	ENSG00000142512	ENST00000353836;ENST00000356298;ENST00000525998;ENST00000339313;ENST00000530476	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.69	3.63	0.41609	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.108911	0.41823	D	0.000820	T	0.30008	0.0751	M	0.79123	2.44	0.18873	N	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.993	T	0.02238	-1.1190	10	0.87932	D	0	.	9.1406	0.36901	0.0:0.8929:0.0:0.1071	.	157;157;157	E9PL79;Q96LC7-2;Q96LC7	.;.;SIG10_HUMAN	E	157;157;157;157;124	ENSP00000342389:G157E;ENSP00000348646:G157E;ENSP00000431444:G157E;ENSP00000345243:G157E;ENSP00000433838:G124E	ENSP00000345243:G157E	G	-	2	0	SIGLEC10	56611968	0.038000	0.19896	0.056000	0.19401	0.192000	0.23643	0.898000	0.28404	2.152000	0.67230	0.313000	0.20887	GGG		PASS	0.612	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		81	151	81	151	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53453974	53453974	+	Silent	SNP	G	G	T	rs535973683		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:53453974G>T	ENST00000357666.4	-	5	1354	c.1054C>A	c.(1054-1056)Cga>Aga	p.R352R	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.R352R|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	352					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.R352R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GCTGAATTTCGACCAAAAGTC	0.423																																						uc002qal.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1054-1056)CGA>AGA		zinc finger protein 816A							152.0	155.0	154.0					19																	53453974		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453974G>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1054C>A	19.37:g.53453974G>T						ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.R336R	p.R352R	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1355	-			352			C2H2-type 5.		A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1054C>A	CCDS33096.1																																																																																				PASS	0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		71	410	71	410	---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54545450	54545450	+	Splice_Site	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:54545450C>A	ENST00000338372.2	-	6	663	c.488G>T	c.(487-489)aGt>aTt	p.S163I	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Splice_Site_p.G132V|VSTM1_ENST00000366170.2_Splice_Site_p.S75I	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	163			S -> G (in dbSNP:rs2433724). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:22960280, ECO:0000269|Ref.3}.		immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S163I(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGATGATGAACCTACAAAAAA	0.493																																						uc002qcw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)AGT>ATT		V-set and transmembrane domain containing 1							144.0	148.0	146.0					19																	54545450		2203	4300	6503	SO:0001630	splice_region_variant	284415					integral to membrane		g.chr19:54545450C>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.488-1G>T	19.37:g.54545450C>A						VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.G132V	p.S163I	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	6	664	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		163					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.488G>T	CCDS12872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.759|8.759	0.923123|0.923123	0.18056|0.18056	.|.	.|.	ENSG00000189068|ENSG00000189068	ENST00000419106;ENST00000376626|ENST00000338372;ENST00000366170	T;T|T;T	0.12039|0.50277	2.72;6.5|6.8;0.75	3.04|3.04	-2.7|-2.7	0.06004|0.06004	.|.	.|0.810448	.|0.10070	.|U	.|0.719777	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.08118|0.08118	0|0	0.26281|0.26281	N|N	0.978275|0.978275	D|B	0.89917|0.20368	1.0|0.044	D|B	0.69654|0.16289	0.965|0.015	T|T	0.16100|0.16100	-1.0414|-1.0414	9|10	0.56958|0.37606	D|T	0.05|0.19	.|.	7.2636|7.2636	0.26217|0.26217	0.0:0.352:0.0:0.648|0.0:0.352:0.0:0.648	.|.	132|163	D2DJS4|Q6UX27	.|VSTM1_HUMAN	V|I	53;132|163;75	ENSP00000409412:G53V;ENSP00000365813:G132V|ENSP00000343366:S163I;ENSP00000444153:S75I	ENSP00000365813:G132V|ENSP00000343366:S163I	G|S	-|-	2|2	0|0	VSTM1|VSTM1	59237262|59237262	0.002000|0.002000	0.14202|0.14202	0.037000|0.037000	0.18230|0.18230	0.022000|0.022000	0.10575|0.10575	-0.531000|-0.531000	0.06171|0.06171	-0.431000|-0.431000	0.07307|0.07307	0.543000|0.543000	0.68304|0.68304	GGT|AGT		PASS	0.493	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	Missense_Mutation	99	128	99	128	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54759149	54759149	+	Splice_Site	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:54759149C>T	ENST00000316219.5	-	5	1059	c.952G>A	c.(952-954)Gga>Aga	p.G318R	LILRB5_ENST00000345866.6_Splice_Site_p.G218R|LILRB5_ENST00000449561.2_Splice_Site_p.G318R|LILRB5_ENST00000450632.1_Splice_Site_p.G309R	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	318					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.G318R(1)|p.G309R(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCCTCACCTGCGATCAGG	0.677																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(952-954)GGA>AGA		leukocyte immunoglobulin-like receptor,							20.0	22.0	21.0					19																	54759149		2176	4243	6419	SO:0001630	splice_region_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54759149C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.952+1G>A	19.37:g.54759149C>T						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.G309R|LILRB5_uc002qey.2_Missense_Mutation_p.G318R|LILRB5_uc002qez.2_Missense_Mutation_p.G218R|LILRB5_uc002qfa.1_Missense_Mutation_p.G208R|LILRB5_uc010yes.1_RNA	p.G318R	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1063	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		318			Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.952G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931833	0.52866	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.01379	4.96;4.96;4.96;4.96	2.78	2.78	0.32641	.	0.000000	0.34932	N	0.003573	T	0.08980	0.0222	M	0.93197	3.39	0.29664	N	0.843011	P;P;D;D;P	0.67145	0.521;0.486;0.995;0.996;0.928	B;B;P;P;P	0.62491	0.302;0.119;0.77;0.903;0.85	T	0.01294	-1.1393	9	.	.	.	.	9.2089	0.37306	0.0:1.0:0.0:0.0	.	309;209;218;318;318	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	R	318;309;318;218	ENSP00000320390:G318R;ENSP00000414225:G309R;ENSP00000406478:G318R;ENSP00000263430:G218R	.	G	-	1	0	LILRB5	59450961	0.946000	0.32159	0.948000	0.38648	0.845000	0.48019	1.342000	0.33919	1.861000	0.53984	0.573000	0.79308	GGA		PASS	0.677	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		Missense_Mutation	46	69	46	69	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55354367	55354367	+	Intron	SNP	A	A	G	rs202149687		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:55354367A>G	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCAAGCTCCAAAACCGGTGA	0.507																																						uc002qhm.1																			0					0						c.(709-711)AAA>GAA		killer cell immunoglobulin-like receptor, two							139.0	122.0	129.0					19																	55354367		1491	2626	4117	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55354367A>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+17834A>G	19.37:g.55354367A>G						KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	p.K237E	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	755	+			237			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.709A>G																																																																																					PASS	0.507	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		4	136	4	136	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55452951	55452951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:55452951C>T	ENST00000590030.1	-	1	169	c.129G>A	c.(127-129)tgG>tgA	p.W43*	NLRP7_ENST00000446217.1_Nonsense_Mutation_p.W71*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W43*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W43*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W43*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W43*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W43*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	43	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.W43*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCACCTCAGACCATGGGGTCT	0.473																																						uc002qih.3																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(127-129)TGG>TGA		NACHT, leucine rich repeat and PYD containing 7							95.0	90.0	92.0					19																	55452951		2203	4300	6503	SO:0001587	stop_gained	199713						ATP binding	g.chr19:55452951C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.129G>A	19.37:g.55452951C>T	ENSP00000465520:p.Trp43*					NLRP7_uc002qig.3_Nonsense_Mutation_p.W43*|NLRP7_uc002qii.3_Nonsense_Mutation_p.W43*|NLRP7_uc010esk.2_Nonsense_Mutation_p.W43*|NLRP7_uc010esl.2_Nonsense_Mutation_p.W71*	p.W43*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	2	205	-			43			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	ENST00000590030.1	37	c.129G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351159	0.41599	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	1.53	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	6.5079	0.22206	0.0:1.0:0.0:0.0	.	.	.	.	X	43;43;43;71;43	.	ENSP00000329568:W43X	W	-	3	0	NLRP7	60144763	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.463000	0.21972	1.144000	0.42321	0.313000	0.20887	TGG		PASS	0.473	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		34	185	34	185	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55494236	55494236	+	Silent	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:55494236C>A	ENST00000543010.1	+	6	1313	c.1170C>A	c.(1168-1170)gcC>gcA	p.A390A	NLRP2_ENST00000391721.4_Silent_p.A366A|NLRP2_ENST00000263437.6_Silent_p.A387A|NLRP2_ENST00000537859.1_Silent_p.A368A|NLRP2_ENST00000339757.7_Silent_p.A368A|NLRP2_ENST00000538819.1_Silent_p.A366A|NLRP2_ENST00000427260.2_Silent_p.A367A|NLRP2_ENST00000448584.2_Silent_p.A390A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	390	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.A390A(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAACGCGGCCCTGTTCCAGC	0.627																																						uc002qij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1168-1170)GCC>GCA		NLR family, pyrin domain containing 2							31.0	30.0	30.0					19																	55494236		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494236C>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1170C>A	19.37:g.55494236C>A						NLRP2_uc010yfp.1_Silent_p.A367A|NLRP2_uc010esn.2_Silent_p.A366A|NLRP2_uc010eso.2_Silent_p.A387A|NLRP2_uc010esp.2_Silent_p.A368A	p.A390A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1256	+			390			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1170C>A	CCDS12913.1																																																																																				PASS	0.627	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		41	75	41	75	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56481925	56481925	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:56481925G>T	ENST00000291971.3	+	6	2468	c.2397G>T	c.(2395-2397)ttG>ttT	p.L799F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L799F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	799					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L799F(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGACTGCTTGGCCACCCCTA	0.473																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2395-2397)TTG>TTT		NLR family, pyrin domain containing 8							156.0	148.0	150.0					19																	56481925		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56481925G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2397G>T	19.37:g.56481925G>T	ENSP00000291971:p.Leu799Phe					NLRP8_uc010etg.2_Missense_Mutation_p.L799F	p.L799F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2468	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	799					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2397G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	4.551	0.102270	0.08731	.	.	ENSG00000179709	ENST00000291971	T	0.53640	0.61	1.93	-3.2	0.05156	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P;B	0.39003	0.654;0.016	B;B	0.30401	0.115;0.003	T	0.11518	-1.0584	9	0.33141	T	0.24	.	2.6629	0.05032	0.4719:0.0:0.3066:0.2215	.	799;799	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	799	ENSP00000291971:L799F	ENSP00000291971:L799F	L	+	3	2	NLRP8	61173737	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-2.102000	0.01343	-0.801000	0.04427	0.514000	0.50259	TTG		PASS	0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		73	209	73	209	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539467	56539467	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:56539467A>T	ENST00000390649.3	+	7	1868	c.1868A>T	c.(1867-1869)cAg>cTg	p.Q623L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	623					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.Q623L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGCTTAAACAGGCAGGCTTC	0.547																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1867-1869)CAG>CTG		NACHT, LRR and PYD containing protein 5							66.0	67.0	67.0					19																	56539467		1958	4141	6099	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539467A>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1868A>T	19.37:g.56539467A>T	ENSP00000375063:p.Gln623Leu					NLRP5_uc002qmi.2_Missense_Mutation_p.Q604L	p.Q623L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1868	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	623					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1868A>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733406	0.30684	.	.	ENSG00000171487	ENST00000390649	T	0.72282	-0.64	2.45	2.45	0.29901	.	0.547277	0.14045	N	0.345157	T	0.56187	0.1968	L	0.41236	1.265	0.09310	N	1	B	0.23490	0.086	B	0.20955	0.032	T	0.39121	-0.9629	10	0.24483	T	0.36	.	6.8433	0.23975	1.0:0.0:0.0:0.0	.	623	P59047	NALP5_HUMAN	L	623	ENSP00000375063:Q623L	ENSP00000375063:Q623L	Q	+	2	0	NLRP5	61231279	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	0.182000	0.16900	1.381000	0.46364	0.459000	0.35465	CAG		PASS	0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		24	74	24	74	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286820	57286820	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:57286820G>T	ENST00000391708.3	-	12	1362	c.820C>A	c.(820-822)Ccc>Acc	p.P274T	AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P274T|ZIM2_ENST00000599935.1_Missense_Mutation_p.P274T|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P274T|ZIM2_ENST00000221722.5_Missense_Mutation_p.P274T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P274T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGGTCTTGGGGTCATTCATT	0.443																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(820-822)CCC>ACC		zinc finger, imprinted 2							119.0	111.0	114.0					19																	57286820		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286820G>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.820C>A	19.37:g.57286820G>T	ENSP00000375589:p.Pro274Thr					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.P70T|ZIM2_uc010ygr.1_Missense_Mutation_p.P70T|ZIM2_uc002qnq.2_Missense_Mutation_p.P274T|ZIM2_uc010etp.2_Missense_Mutation_p.P274T|ZIM2_uc010ygs.1_Missense_Mutation_p.P274T	p.P274T	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1202	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	274					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.820C>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	7.235	0.600046	0.13939	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04317	3.65;3.65	3.94	-0.823	0.10815	.	.	.	.	.	T	0.03477	0.0100	L	0.27053	0.805	.	.	.	B	0.21381	0.055	B	0.23150	0.044	T	0.35919	-0.9769	8	0.51188	T	0.08	.	4.4997	0.11858	0.1818:0.0:0.5208:0.2974	.	274	Q9NZV7	ZIM2_HUMAN	T	274	ENSP00000375589:P274T;ENSP00000221722:P274T	ENSP00000221722:P274T	P	-	1	0	ZIM2	61978632	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.773000	0.04689	-0.025000	0.13918	0.655000	0.94253	CCC		PASS	0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			52	147	52	147	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57335870	57335871	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:57335870_57335871GG>TT	ENST00000326441.9	-	4	516_517	c.153_154CC>AA	c.(151-156)aaCCta>aaAAta	p.51_52NL>KI	PEG3_ENST00000423103.2_Missense_Mutation_p.51_52NL>KI|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	51	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L52I(2)|p.N51K(2)|p.N51_L52>KI(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATAGATTAGGTTCCGAAACC	0.49																																						uc002qnu.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(154-156)CTA>ATA|c.(151-153)AAC>AAA		paternally expressed 3 isoform 1																																				SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335870G>T|g.chr19:57335871G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.153_154delinsTT	19.37:g.57335870_57335871delinsTT	ENSP00000326581:p.N51_L52delinsKI					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L52I|PEG3_uc002qnv.2_Missense_Mutation_p.L52I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.L52I|ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N51K|PEG3_uc002qnv.2_Missense_Mutation_p.N51K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.N51K	p.L52I|p.N51K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	505|504	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	52|51			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.154C>A|c.153C>A	CCDS12948.1																																																																																				PASS	0.490	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			29	101|100	29	100	---	---	---	---
C20orf27	54976	broad.mit.edu	37	20	3734772	3734772	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:3734772C>A	ENST00000379772.3	-	6	1268	c.458G>T	c.(457-459)gGt>gTt	p.G153V	C20orf27_ENST00000217195.8_Missense_Mutation_p.G178V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	153								p.G178V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACACTTGACACCATCCAGCAG	0.692																																						uc002wji.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)GGT>GTT		hypothetical protein LOC54976							51.0	41.0	45.0					20																	3734772		2203	4300	6503	SO:0001583	missense	54976							g.chr20:3734772C>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.458G>T	20.37:g.3734772C>A	ENSP00000369097:p.Gly153Val					C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.G178V	p.G153V	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN			6	687	-			153					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.458G>T	CCDS58763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.875408|4.875408	0.91664|0.91664	.|.	.|.	ENSG00000101220|ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765|ENST00000399683	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|.	.|.	.|.	.|.	T|T	0.76378|0.76378	0.3979|0.3979	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.76953|0.76953	-0.2768|-0.2768	8|5	0.87932|.	D|.	0|.	-4.3154|-4.3154	16.1432|16.1432	0.81544|0.81544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153;178|.	Q9GZN8;Q9GZN8-2|.	CT027_HUMAN;.|.	V|L	153;178;153;112|106	.|.	ENSP00000217195:G178V|.	G|V	-|-	2|1	0|0	C20orf27|C20orf27	3682772|3682772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.215000|7.215000	0.77966|0.77966	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	GGT|GTG		PASS	0.692	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		37	40	37	40	---	---	---	---
ADRA1D	146	broad.mit.edu	37	20	4229009	4229009	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:4229009C>T	ENST00000379453.4	-	1	712	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	199					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.R199H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GAGTGAGTGGCGCACGCCCAC	0.682																																						uc002wkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)CGC>CAC		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						33.0	36.0	35.0					20																	4229009		2196	4296	6492	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4229009C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.596G>A	20.37:g.4229009C>T	ENSP00000368766:p.Arg199His						p.R199H	NM_000678	NP_000669	P25100	ADA1D_HUMAN			1	651	-			199			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.596G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.627986	0.66901	.	.	ENSG00000171873	ENST00000379453	T	0.19806	2.12	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.055353	0.64402	D	0.000004	T	0.34513	0.0900	L	0.48260	1.515	0.31054	N	0.714891	D	0.76494	0.999	D	0.73380	0.98	T	0.24977	-1.0145	10	0.59425	D	0.04	.	8.376	0.32442	0.0:0.8943:0.0:0.1057	.	199	P25100	ADA1D_HUMAN	H	199	ENSP00000368766:R199H	ENSP00000368766:R199H	R	-	2	0	ADRA1D	4177009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.625000	0.46452	2.339000	0.79563	0.552000	0.68991	CGC		PASS	0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		29	16	29	16	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13830204	13830205	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:13830204_13830205GG>TT	ENST00000284951.5	-	20	2067_2068	c.1993_1994CC>AA	c.(1993-1995)CCa>AAa	p.P665K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.P552K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	665						integral component of membrane (GO:0016021)		p.P665K(1)|p.P665Q(1)|p.P665T(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						GTCCCAGTGTGGTCCAATGGTG	0.475																																						uc010gcf.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1993-1995)CCA>CAA|c.(1993-1995)CCA>ACA		sel-1 suppressor of lin-12-like 2 precursor																																				SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830204G>T|g.chr20:13830205G>T	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.1993_1994delinsTT	20.37:g.13830204_13830205delinsTT	ENSP00000284951:p.Pro665Lys					SEL1L2_uc002woq.3_Missense_Mutation_p.P526Q|SEL1L2_uc010zrl.1_Missense_Mutation_p.P552Q|SEL1L2_uc002wor.2_RNA|SEL1L2_uc002woq.3_Missense_Mutation_p.P526T|SEL1L2_uc010zrl.1_Missense_Mutation_p.P552T|SEL1L2_uc002wor.2_RNA	p.P665Q|p.P665T	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			20	2076|2075	-			665			Helical; (Potential).		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1994C>A|c.1993C>A																																																																																					PASS	0.475	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		76	261|260	76	260	---	---	---	---
DZANK1	55184	broad.mit.edu	37	20	18370448	18370448	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:18370448C>G	ENST00000358866.6	-	18	1937	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.E639Q|DZANK1_ENST00000329494.5_Missense_Mutation_p.E617Q|DZANK1_ENST00000357236.4_Missense_Mutation_p.E525Q			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	639							zinc ion binding (GO:0008270)	p.E639Q(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CGATTGTCTTCATCACAGCAG	0.517																																						uc010zsa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1972-1974)GAA>CAA		hypothetical protein LOC55184							148.0	150.0	149.0					20																	18370448		2069	4207	6276	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18370448C>G	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1915G>C	20.37:g.18370448C>G	ENSP00000351734:p.Glu639Gln					C20orf12_uc010zrz.1_Missense_Mutation_p.E177Q|C20orf12_uc002wqp.3_Missense_Mutation_p.E349Q|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E525Q|C20orf12_uc002wqq.3_Missense_Mutation_p.E639Q	p.E658Q	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			19	2181	-		Myeloproliferative disorder(85;0.0122)	466					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1972G>C	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844810|1.844810	0.32606|0.32606	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.71222|.	0.61;0.61;-0.55;0.61|.	5.88|5.88	-7.5|-7.5	0.01351|0.01351	.|.	1.686770|.	0.02469|.	N|.	0.087357|.	T|T	0.31796|0.31796	0.0808|0.0808	L|L	0.35487|0.35487	1.065|1.065	0.09310|0.09310	N|N	1|1	P;P;B;B|.	0.47106|.	0.845;0.89;0.29;0.257|.	B;B;B;B|.	0.39258|.	0.295;0.263;0.095;0.215|.	T|T	0.39881|0.39881	-0.9592|-0.9592	10|5	0.22109|.	T|.	0.4|.	1.5076|1.5076	12.4667|12.4667	0.55762|0.55762	0.0:0.111:0.1009:0.7882|0.0:0.111:0.1009:0.7882	.|.	658;525;639;424|.	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0|.	.;.;DZAN1_HUMAN;.|.	Q|I	472;639;617;471;424;525|437	ENSP00000366857:E472Q;ENSP00000262547:E639Q;ENSP00000328866:E617Q;ENSP00000349774:E525Q|.	ENSP00000262547:E639Q|.	E|M	-|-	1|3	0|0	C20orf12|C20orf12	18318448|18318448	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.521000|0.521000	0.34408|0.34408	-0.129000|-0.129000	0.10515|0.10515	-1.051000|-1.051000	0.03226|0.03226	-0.150000|-0.150000	0.13652|0.13652	GAA|ATG		PASS	0.517	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		122	252	122	252	---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23966534	23966534	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:23966534C>T	ENST00000335694.4	-	4	586	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.A128T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.A128T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	128					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.A128T(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTGCCCCCGGCAGCTCCCACC	0.647																																						uc002wts.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(382-384)GCC>ACC		gamma-glutamyltransferase light chain 1							104.0	114.0	111.0					20																	23966534		1511	2709	4220	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966534C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.382G>A	20.37:g.23966534C>T	ENSP00000337587:p.Ala128Thr					GGTLC1_uc002wtu.2_Missense_Mutation_p.A128T	p.A128T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			4	515	-			128					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.382G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.895909	0.33442	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.07688	3.17;3.17;3.17	0.844	-1.69	0.08186	.	0.127904	0.53938	D	0.000043	T	0.11196	0.0273	M	0.79805	2.47	0.19300	N	0.99998	B	0.26975	0.165	B	0.34931	0.192	T	0.22103	-1.0226	10	0.66056	D	0.02	-27.081	3.9419	0.09331	0.629:0.371:1.0E-4:0.0	.	128	Q9BX51	GGTL1_HUMAN	T	128	ENSP00000286890:A128T;ENSP00000278765:A128T;ENSP00000337587:A128T	ENSP00000278765:A128T	A	-	1	0	GGTLC1	23914534	0.995000	0.38212	0.123000	0.21794	0.131000	0.20780	2.279000	0.43435	0.088000	0.17205	0.089000	0.15464	GCC		PASS	0.647	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		165	362	165	362	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31021590	31021590	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:31021590C>A	ENST00000375687.4	+	12	2013	c.1589C>A	c.(1588-1590)gCg>gAg	p.A530E	ASXL1_ENST00000306058.5_Missense_Mutation_p.A525E	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	530	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A530E(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTGAGCAGGCGGCCTCTGCA	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1588-1590)GCG>GAG		additional sex combs like 1 isoform 1							112.0	122.0	119.0					20																	31021590		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021590C>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1589C>A	20.37:g.31021590C>A	ENSP00000364839:p.Ala530Glu					ASXL1_uc010geb.2_Missense_Mutation_p.A421E	p.A530E	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2015	+			530					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1589C>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160651	0.21454	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	5.02	4.04	0.47022	.	0.394685	0.28109	N	0.016578	T	0.30324	0.0761	L	0.38838	1.175	0.36197	D	0.850453	B;B	0.19200	0.034;0.001	B;B	0.20955	0.032;0.002	T	0.24297	-1.0164	10	0.02654	T	1	-1.6409	14.8858	0.70567	0.1445:0.8555:0.0:0.0	.	525;530	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	E	530;530;530;469;525	ENSP00000364839:A530E;ENSP00000305119:A525E	ENSP00000305119:A525E	A	+	2	0	ASXL1	30485251	0.999000	0.42202	0.972000	0.41901	0.992000	0.81027	2.198000	0.42705	1.423000	0.47198	0.655000	0.94253	GCG		PASS	0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	754	5	754	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547																																						uc002xbi.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|breast(1)	2						c.(2011-2013)GCG>GTG		myosin, heavy polypeptide 7B, cardiac muscle,							85.0	93.0	90.0					20																	33577935		2093	4225	6318	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577935C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2012C>T	20.37:g.33577935C>T	ENSP00000262873:p.Ala671Val					MIR499_hsa-mir-499|MI0003183_5'Flank	p.A671V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2104	+			629			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2012C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808473	0.16467	.	.	ENSG00000078814	ENST00000262873	D	0.87966	-2.32	4.59	4.59	0.56863	Myosin head, motor domain (2);	0.203453	0.24633	N	0.036873	T	0.73737	0.3625	N	0.19112	0.55	0.25778	N	0.984766	B	0.11235	0.004	B	0.04013	0.001	T	0.56189	-0.8020	10	0.22706	T	0.39	.	5.4356	0.16480	0.0:0.7552:0.0:0.2448	.	629	A7E2Y1	MYH7B_HUMAN	V	671	ENSP00000262873:A671V	ENSP00000262873:A671V	A	+	2	0	MYH7B	33041596	0.135000	0.22499	0.969000	0.41365	0.450000	0.32258	2.110000	0.41873	2.387000	0.81309	0.511000	0.50034	GCG		PASS	0.547	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	435	6	435	---	---	---	---
DBNDD2	55861	broad.mit.edu	37	20	44037164	44037164	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:44037164G>A	ENST00000372720.3	+	2	582	c.351G>A	c.(349-351)cgG>cgA	p.R117R	DBNDD2_ENST00000357275.2_Silent_p.R19R|DBNDD2_ENST00000372712.2_Silent_p.R19R|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372710.3_Silent_p.R121R|DBNDD2_ENST00000372722.3_Silent_p.R19R|DBNDD2_ENST00000372717.1_Silent_p.R19R|DBNDD2_ENST00000360981.4_Silent_p.R19R|DBNDD2_ENST00000372723.3_Silent_p.R19R|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	117					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)		p.R19R(1)|p.R117R(1)		breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TTCGGGAGCGGCAAAAATTCT	0.552																																						uc002xnx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(55-57)CGG>CGA		SCF apoptosis response protein 1 isoform a							70.0	74.0	73.0					20																	44037164		1886	4103	5989	SO:0001819	synonymous_variant	767557							g.chr20:44037164G>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.351G>A	20.37:g.44037164G>A						DBNDD2_uc002xnz.2_Silent_p.R19R|DBNDD2_uc002xoa.2_Silent_p.R19R|DBNDD2_uc002xob.2_Silent_p.R19R|DBNDD2_uc002xoc.2_Silent_p.R19R|DBNDD2_uc002xod.2_Silent_p.R19R|DBNDD2_uc002xoe.2_Silent_p.R19R|DBNDD2_uc002xof.2_Silent_p.R19R|DBNDD2_uc002xog.2_Silent_p.R19R	p.R19R	NM_001048225	NP_001041690					4	553	+								Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Silent	SNP	ENST00000372720.3	37	c.57G>A	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700811	0.30142	.	.	ENSG00000244274	ENST00000443296	.	.	.	5.61	3.23	0.37069	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57820	-0.7745	4	.	.	.	.	10.5889	0.45298	0.1734:0.0:0.8266:0.0	.	.	.	.	D	79	.	.	G	+	2	0	DBNDD2	43470578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.966000	0.40481	1.299000	0.44798	0.655000	0.94253	GGC		PASS	0.552	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		5	293	5	293	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47364384	47364384	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:47364384C>T	ENST00000371941.3	-	2	275	c.253G>A	c.(253-255)Gac>Aac	p.D85N	PREX1_ENST00000396220.1_Missense_Mutation_p.D85N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	85	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D85N(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCACTGAGTCGGCCACGTTC	0.597																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(253-255)GAC>AAC		phosphatidylinositol-3,4,							114.0	99.0	104.0					20																	47364384		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47364384C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.253G>A	20.37:g.47364384C>T	ENSP00000361009:p.Asp85Asn						p.D85N	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		2	276	-			85			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.253G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592326	0.46214	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	0.02;0.0	4.58	4.58	0.56647	Dbl homology (DH) domain (5);	0.000000	0.51477	U	0.000091	T	0.48409	0.1498	N	0.16790	0.44	0.58432	D	0.999994	B	0.24368	0.102	B	0.24269	0.052	T	0.45483	-0.9258	10	0.39692	T	0.17	.	17.1594	0.86800	0.0:1.0:0.0:0.0	.	85	Q8TCU6	PREX1_HUMAN	N	85	ENSP00000361009:D85N;ENSP00000379522:D85N	ENSP00000361009:D85N	D	-	1	0	PREX1	46797791	0.973000	0.33851	0.887000	0.34795	0.287000	0.27160	2.311000	0.43717	2.377000	0.81083	0.448000	0.29417	GAC		PASS	0.597	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		35	48	35	48	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62076081	62076081	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:62076081C>T	ENST00000359125.2	-	4	795	c.621G>A	c.(619-621)cgG>cgA	p.R207R	KCNQ2_ENST00000360480.3_Silent_p.R207R|KCNQ2_ENST00000344462.4_Silent_p.R207R|KCNQ2_ENST00000354587.3_Silent_p.R207R|KCNQ2_ENST00000359689.1_Silent_p.R207R|KCNQ2_ENST00000344425.5_Silent_p.R207R|KCNQ2_ENST00000370224.1_Silent_p.R207R|KCNQ2_ENST00000357249.2_Silent_p.R207R	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	207			R -> Q (in a patient with isolated myokymia and no history of neonatal seizures; leads to a shift of voltage- dependent activation). {ECO:0000269|PubMed:17872363}.|R -> W (in BFNS1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage- dependent activation of the channel and a dramatic slowing of activation upon depolarization). {ECO:0000269|PubMed:11572947}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R207R(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCGGATCATCCGCAGAATCT	0.667																																						uc002yey.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(619-621)CGG>CGA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						22.0	23.0	23.0					20																	62076081		2199	4289	6488	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62076081C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.621G>A	20.37:g.62076081C>T						KCNQ2_uc002yez.1_Silent_p.R207R|KCNQ2_uc002yfa.1_Silent_p.R207R|KCNQ2_uc002yfb.1_Silent_p.R207R|KCNQ2_uc011aax.1_Silent_p.R207R|KCNQ2_uc002yfc.1_Silent_p.R207R	p.R207R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		4	798	-	all_cancers(38;1.24e-11)		207		R -> W (in EBN1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization).|R -> Q (in a patient with isolated myokymia and no history of neonatal seizures; leads to a shift of voltage- dependent activation).	Helical; Voltage-sensor; Name=Segment S4; (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.621G>A	CCDS13520.1																																																																																				PASS	0.667	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		18	14	18	14	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737384	62737384	+	Silent	SNP	G	G	A	rs374344276		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr20:62737384G>A	ENST00000369768.1	-	1	1140	c.801C>T	c.(799-801)gcC>gcT	p.A267A		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	267					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.A267A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGAGGCACACGGCCAGCACGA	0.677																																						uc011abt.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(799-801)GCC>GCT		neuropeptides B/W receptor 2		G		0,4398		0,0,2199	103.0	78.0	86.0		801	-4.8	0.0	20		86	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		267/334	62737384	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737384G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.801C>T	20.37:g.62737384G>A							p.A267A	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	801	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		267			Helical; Name=6; (Potential).		Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.801C>T	CCDS13557.1																																																																																				PASS	0.677	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		19	98	19	98	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28338580	28338580	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr21:28338580C>T	ENST00000284987.5	-	1	252	c.131G>A	c.(130-132)cGc>cAc	p.R44H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	44					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R44H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGCCGCCGGCGGGGCTGGGC	0.766																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(130-132)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							5.0	6.0	6.0					21																	28338580		1467	3056	4523	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338580C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.131G>A	21.37:g.28338580C>T	ENSP00000284987:p.Arg44His						p.R44H	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	860	-			44					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.131G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245692	0.39697	.	.	ENSG00000154736	ENST00000284987	T	0.06218	3.33	4.17	-0.0183	0.13965	.	0.575715	0.14675	N	0.305068	T	0.03915	0.0110	N	0.22421	0.69	0.22926	N	0.998559	B	0.06786	0.001	B	0.06405	0.002	T	0.39187	-0.9626	10	0.38643	T	0.18	.	5.155	0.15031	0.0:0.4877:0.1487:0.3637	.	44	Q9UNA0	ATS5_HUMAN	H	44	ENSP00000284987:R44H	ENSP00000284987:R44H	R	-	2	0	ADAMTS5	27260451	0.988000	0.35896	0.659000	0.29680	0.916000	0.54674	0.735000	0.26115	0.041000	0.15688	0.563000	0.77884	CGC		PASS	0.766	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			5	2	5	2	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34051029	34051029	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr21:34051029A>C	ENST00000322229.7	-	11	1435	c.1436T>G	c.(1435-1437)tTg>tGg	p.L479W	SYNJ1_ENST00000382491.3_Missense_Mutation_p.L482W|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L479W|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L518W|SYNJ1_ENST00000382499.2_Missense_Mutation_p.L518W			O43426	SYNJ1_HUMAN	synaptojanin 1	479					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.L479W(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCCCAGTAGCAAAACATCAAT	0.393																																						uc002yqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1552-1554)TTG>TGG		synaptojanin 1 isoform a							94.0	91.0	92.0					21																	34051029		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34051029A>C	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1436T>G	21.37:g.34051029A>C	ENSP00000322234:p.Leu479Trp					SYNJ1_uc011ads.1_Missense_Mutation_p.L482W|SYNJ1_uc002yqf.2_Missense_Mutation_p.L479W|SYNJ1_uc002yqg.2_Missense_Mutation_p.L482W|SYNJ1_uc002yqi.2_Missense_Mutation_p.L518W	p.L518W	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			12	1553	-			479					O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1553T>G	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.981515	0.93044	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.99	5.99	0.97316	.	0.066795	0.64402	D	0.000008	T	0.62171	0.2406	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.997;1.0;0.997;0.999	T	0.72178	-0.4369	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	482;518;479;479;479	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	W	482;479;518;518;479;482	ENSP00000371931:L482W;ENSP00000349903:L479W;ENSP00000371939:L518W;ENSP00000409667:L518W;ENSP00000322234:L479W;ENSP00000413649:L482W	ENSP00000322234:L479W	L	-	2	0	SYNJ1	32972900	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.288000	0.96055	2.291000	0.77112	0.533000	0.62120	TTG		PASS	0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				84	32	84	32	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19222104	19222104	+	Silent	SNP	C	C	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:19222104C>G	ENST00000263200.10	-	7	1167	c.1095G>C	c.(1093-1095)gtG>gtC	p.V365V	CLTCL1_ENST00000427926.1_Silent_p.V365V|CLTCL1_ENST00000353891.5_Silent_p.V365V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	365	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.V365V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGAATTTTCTCACAAACAACT	0.468			T	?	ALCL																																	uc002zpb.2				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1093-1095)GTG>GTC		clathrin, heavy polypeptide-like 1 isoform 1							79.0	78.0	78.0					22																	19222104		1921	4122	6043	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19222104C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1095G>C	22.37:g.19222104C>G						CLTCL1_uc011agv.1_Silent_p.V365V|CLTCL1_uc011agw.1_Silent_p.V365V	p.V365V	NM_007098	NP_009029	P53675	CLH2_HUMAN			7	1170	-	Colorectal(54;0.0993)		365			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.1095G>C	CCDS46662.1																																																																																				PASS	0.468	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		13	134	13	134	---	---	---	---
IGLV2-14	28815	broad.mit.edu	37	22	23101436	23101436	+	RNA	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:23101436T>A	ENST00000390312.2	+	0	131				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		CCTCCGTGTCTGGGTCTCCTG	0.587																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							122.0	124.0	123.0					22																	23101436		2033	4194	6227			96610							g.chr22:23101436T>A	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101436T>A														210		+									RNA	SNP	ENST00000390312.2	37	c.10865T>A																																																																																					PASS	0.587	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	NG_000002		192	358	192	358	---	---	---	---
ASPHD2	57168	broad.mit.edu	37	22	26830243	26830243	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:26830243A>T	ENST00000215906.5	+	2	1100	c.662A>T	c.(661-663)aAc>aTc	p.N221I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	221					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.N195I(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGGAAAATGAACAGCACCCCC	0.537																																						uc003acg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)AAC>ATC		aspartate beta-hydroxylase domain containing 2							78.0	74.0	75.0					22																	26830243		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830243A>T	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.662A>T	22.37:g.26830243A>T	ENSP00000215906:p.Asn221Ile						p.N221I	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	1059	+			221			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.662A>T	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970741	0.74246	.	.	ENSG00000128203	ENST00000215906	T	0.46819	0.86	4.82	4.82	0.62117	.	0.049648	0.85682	D	0.000000	T	0.69878	0.3160	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.75439	-0.3317	10	0.62326	D	0.03	-28.5602	13.7439	0.62863	1.0:0.0:0.0:0.0	.	221	Q6ICH7	ASPH2_HUMAN	I	221	ENSP00000215906:N221I	ENSP00000215906:N221I	N	+	2	0	ASPHD2	25160243	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.332000	0.90024	2.023000	0.59567	0.455000	0.32223	AAC		PASS	0.537	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		104	449	104	449	---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26866751	26866751	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:26866751G>A	ENST00000398145.2	-	7	1146	c.530C>T	c.(529-531)gCc>gTc	p.A177V	HPS4_ENST00000336873.5_Missense_Mutation_p.A177V|HPS4_ENST00000402105.3_Missense_Mutation_p.A172V|HPS4_ENST00000398141.1_Missense_Mutation_p.A172V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	177					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.A172V(1)|p.A177V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGAATGCGGGCTGCCTTCAG	0.572									Hermansky-Pudlak syndrome																													uc003acl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(529-531)GCC>GTC		light ear protein isoform a							48.0	44.0	45.0					22																	26866751		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26866751G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.530C>T	22.37:g.26866751G>A	ENSP00000381213:p.Ala177Val					HPS4_uc003aci.2_Missense_Mutation_p.A172V|HPS4_uc003acj.2_Missense_Mutation_p.A23V|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_Missense_Mutation_p.A23V|HPS4_uc010gvd.1_Missense_Mutation_p.A177V|HPS4_uc003ach.2_5'UTR	p.A177V	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			7	1189	-			177					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.530C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.72982	0.971;0.979;0.971;0.979;0.971	D	0.93427	0.6782	10	0.45353	T	0.12	-18.2435	16.7503	0.85484	0.0:0.0:1.0:0.0	.	177;177;177;172;172	Q6ICH6;Q6P1K3;Q9NQG7;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.	V	177;172;172;177;177;177	ENSP00000381213:A177V;ENSP00000381210:A172V;ENSP00000384185:A172V;ENSP00000338457:A177V;ENSP00000415081:A177V	ENSP00000325840:A177V	A	-	2	0	HPS4	25196751	1.000000	0.71417	0.306000	0.25113	0.987000	0.75469	7.802000	0.85969	2.526000	0.85167	0.561000	0.74099	GCC		PASS	0.572	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		5	234	5	234	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194126	28194126	+	Missense_Mutation	SNP	C	C	A	rs200701145		TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:28194126C>A	ENST00000302326.4	-	1	3360	c.2406G>T	c.(2404-2406)ttG>ttT	p.L802F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	802					intramembranous ossification (GO:0001957)			p.L802F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGAGCGCGCCCAATTTACTGG	0.682			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(2404-2406)TTG>TTT		meningioma  1							19.0	22.0	21.0					22																	28194126		1931	4121	6052	SO:0001583	missense	4330						binding	g.chr22:28194126C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2406G>T	22.37:g.28194126C>A	ENSP00000304956:p.Leu802Phe						p.L802F	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3361	-			802					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2406G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649236	0.47362	.	.	ENSG00000169184	ENST00000302326	T	0.62639	0.01	3.74	1.56	0.23342	.	0.000000	0.64402	D	0.000013	T	0.60431	0.2268	L	0.29908	0.895	0.39380	D	0.966243	D	0.76494	0.999	D	0.87578	0.998	T	0.58301	-0.7660	10	0.38643	T	0.18	-14.2067	3.0768	0.06249	0.1808:0.5418:0.1759:0.1014	.	802	Q10571	MN1_HUMAN	F	802	ENSP00000304956:L802F	ENSP00000304956:L802F	L	-	3	2	MN1	26524126	0.994000	0.37717	1.000000	0.80357	0.951000	0.60555	0.266000	0.18534	0.250000	0.21479	0.462000	0.41574	TTG		PASS	0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		36	69	36	69	---	---	---	---
EMID1	129080	broad.mit.edu	37	22	29639453	29639453	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:29639453G>A	ENST00000404820.3	+	13	1221	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	EMID1_ENST00000404755.3_Missense_Mutation_p.G344E|EMID1_ENST00000334018.6_Missense_Mutation_p.G365E			Q96A84	EMID1_HUMAN	EMI domain containing 1	363	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.G365E(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGCCCTAAGGGAGACCCTGGT	0.567																																						uc003aen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)GGA>GAA		EMI domain containing 1							74.0	61.0	65.0					22																	29639453		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29639453G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.1094G>A	22.37:g.29639453G>A	ENSP00000384452:p.Gly365Glu					EMID1_uc003aem.2_Missense_Mutation_p.G365E|EMID1_uc003aeo.2_Missense_Mutation_p.G365E|EMID1_uc003aep.2_Missense_Mutation_p.G344E	p.G363E	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			13	1163	+			363			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.1088G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.969947|3.969947	0.74246|0.74246	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000433143|ENST00000334018;ENST00000404755;ENST00000404820	.|D;D;D	.|0.99619	.|-5.77;-6.28;-5.77	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.39985	.|N	.|0.001203	D|D	0.99837|0.99837	0.9926|0.9926	H|H	0.99498|0.99498	4.595|4.595	0.49915|0.49915	D|D	0.999831|0.999831	.|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;0.999	D|D	0.96637|0.96637	0.9471|0.9471	5|10	.|0.87932	.|D	.|0	-7.4424|-7.4424	14.7726|14.7726	0.69691|0.69691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|344;365;363;365	.|B0QYK4;B0QYK5;Q96A84;Q96A84-3	.|.;.;EMID1_HUMAN;.	K|E	228|365;344;365	.|ENSP00000335481:G365E;ENSP00000385414:G344E;ENSP00000384452:G365E	.|ENSP00000335481:G365E	E|G	+|+	1|2	0|0	EMID1|EMID1	27969453|27969453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	4.538000|4.538000	0.60650|0.60650	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GAG|GGA		PASS	0.567	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		8	93	8	93	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35799327	35799327	+	Splice_Site	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:35799327G>T	ENST00000216122.4	+	3	448		c.e3+1		MCM5_ENST00000382011.5_Splice_Site	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGCAGCTGGTGAGTGGGAC	0.597																																						uc003anu.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+1		minichromosome maintenance complex component 5							75.0	71.0	72.0					22																	35799327		2203	4300	6503	SO:0001630	splice_region_variant	4174				cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35799327G>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.294+1G>T	22.37:g.35799327G>T						MCM5_uc010gwr.2_Splice_Site|MCM5_uc003anv.3_Splice_Site_p.L98_splice	p.L98_splice	NM_006739	NP_006730	P33992	MCM5_HUMAN			3	388	+								O60785|Q14578|Q9BTJ4|Q9BWL8	Splice_Site	SNP	ENST00000216122.4	37	c.294_splice	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307844	0.81247	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.922	0.88969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCM5	34129327	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.444000	0.97578	2.228000	0.72767	0.561000	0.74099	.		PASS	0.597	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		Intron	54	119	54	119	---	---	---	---
MIOX	55586	broad.mit.edu	37	22	50926092	50926092	+	Splice_Site	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr22:50926092C>T	ENST00000216075.6	+	3	172	c.98C>T	c.(97-99)tCa>tTa	p.S33L	MIOX_ENST00000395733.3_Splice_Site_p.S33L|MIOX_ENST00000395732.3_Splice_Site_p.S33L	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	33					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)	p.S33L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGCAGTCAGGTCCCCTC	0.667																																						uc003bll.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TCA>TTA		myo-inositol oxygenase							79.0	61.0	67.0					22																	50926092		2203	4300	6503	SO:0001630	splice_region_variant	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50926092C>T	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.97-1C>T	22.37:g.50926092C>T						MIOX_uc003blm.1_Missense_Mutation_p.S33L|MIOX_uc003bln.1_Missense_Mutation_p.S33L	p.S33L	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	212	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	33					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.98C>T	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971814	0.18736	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.38	4.38	0.52667	.	0.412177	0.27289	N	0.020053	T	0.41534	0.1163	L	0.46157	1.445	0.33779	D	0.624041	P;B;B	0.44090	0.826;0.296;0.085	B;B;B	0.42522	0.39;0.063;0.024	T	0.57906	-0.7730	9	0.45353	T	0.12	-0.1087	9.6584	0.39941	0.2078:0.7922:0.0:0.0	.	33;33;33	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	L	33;33;33;28	.	ENSP00000216075:S33L	S	+	2	0	MIOX	49272958	0.851000	0.29673	0.885000	0.34714	0.263000	0.26337	1.382000	0.34374	2.243000	0.73865	0.491000	0.48974	TCA		PASS	0.667	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584	Missense_Mutation	39	102	39	102	---	---	---	---
ARSE	415	broad.mit.edu	37	X	2864051	2864051	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:2864051C>T	ENST00000381134.3	-	7	1045	c.979G>A	c.(979-981)Gac>Aac	p.D327N	ARSE_ENST00000545496.1_Missense_Mutation_p.D352N|ARSE_ENST00000540563.1_Missense_Mutation_p.D282N	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	327					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.D327N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCATCCAGTCCATCTCCTCT	0.473																																						uc004crc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(979-981)GAC>AAC		arylsulfatase E precursor							124.0	111.0	115.0					X																	2864051		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2864051C>T	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.979G>A	X.37:g.2864051C>T	ENSP00000370526:p.Asp327Asn					ARSE_uc011mhi.1_Missense_Mutation_p.D273N|ARSE_uc011mhh.1_Missense_Mutation_p.D352N	p.D327N	NM_000047	NP_000038	P51690	ARSE_HUMAN			7	1229	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	327					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.979G>A	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205373	0.79127	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.99732	-6.57;-6.57;-6.57	3.58	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	H	0.99582	4.64	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96214	0.9155	10	0.87932	D	0	.	14.8454	0.70257	0.0:1.0:0.0:0.0	.	282;352;327	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	N	282;352;327	ENSP00000438198:D282N;ENSP00000441417:D352N;ENSP00000370526:D327N	ENSP00000370526:D327N	D	-	1	0	ARSE	2874051	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.184000	0.72008	1.567000	0.49668	0.600000	0.82982	GAC		PASS	0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		35	67	35	67	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53574823	53574823	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:53574823T>C	ENST00000342160.3	-	67	10904	c.10447A>G	c.(10447-10449)Acc>Gcc	p.T3483A	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.T3483A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3483	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T3373A(1)|p.T3483A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						gcagtggtggtggAGGAAGCA	0.567																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10447-10449)ACC>GCC		HECT, UBA and WWE domain containing 1							100.0	73.0	82.0					X																	53574823		2203	4299	6502	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574823T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10447A>G	X.37:g.53574823T>C	ENSP00000340648:p.Thr3483Ala					HUWE1_uc004dsn.2_Missense_Mutation_p.T2291A	p.T3483A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			68	10849	-			3483			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10447A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.001|9.001	0.980132|0.980132	0.18812|0.18812	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.35421	.|1.31;1.31	5.23|5.23	3.98|3.98	0.46160|0.46160	.|.	.|0.877262	.|0.09901	.|N	.|0.741026	T|T	0.14270|0.14270	0.0345|0.0345	N|N	0.03608|0.03608	-0.345|-0.345	0.26078|0.26078	N|N	0.981132|0.981132	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.30794|0.30794	-0.9966|-0.9966	5|10	.|0.09084	.|T	.|0.74	.|.	5.4682|5.4682	0.16656|0.16656	0.0:0.0942:0.1751:0.7307|0.0:0.0942:0.1751:0.7307	.|.	.|3483;3467	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|A	2516;320|3483	.|ENSP00000340648:T3483A;ENSP00000262854:T3483A	.|ENSP00000262854:T3483A	H|T	-|-	2|1	0|0	HUWE1|HUWE1	53591548|53591548	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	2.791000|2.791000	0.47829|0.47829	1.758000|1.758000	0.51981|0.51981	0.409000|0.409000	0.27619|0.27619	CAC|ACC		PASS	0.567	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		13	0	13	0	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65480022	65480022	+	Silent	SNP	T	T	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:65480022T>C	ENST00000343002.2	+	18	3781	c.3117T>C	c.(3115-3117)ccT>ccC	p.P1039P	HEPH_ENST00000336279.5_Silent_p.P772P|HEPH_ENST00000419594.1_Silent_p.P850P|HEPH_ENST00000441993.2_Silent_p.P1042P|HEPH_ENST00000519389.1_Silent_p.P1093P|HEPH_ENST00000374727.3_Silent_p.P1042P			Q9BQS7	HEPH_HUMAN	hephaestin	1039	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.P1039P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGCAACCCTGGGACATGGC	0.527																																						uc011moz.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(3124-3126)CCT>CCC		hephaestin isoform a							111.0	89.0	97.0					X																	65480022		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480022T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3117T>C	X.37:g.65480022T>C						HEPH_uc004dwn.2_Silent_p.P1042P|HEPH_uc004dwo.2_Silent_p.P772P|HEPH_uc010nkr.2_Silent_p.P850P|HEPH_uc011mpa.1_Silent_p.P1042P	p.P1042P	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3186	+			1039			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.3126T>C																																																																																					PASS	0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		43	14	43	14	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73062730	73062730	+	lincRNA	SNP	A	A	G			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:73062730A>G	ENST00000429829.1	-	0	9858					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATAGTCTGTAAAAAGGGGCCA	0.493																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							90.0	85.0	86.0					X																	73062730		876	1991	2867			7503							g.chrX:73062730A>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062730A>G								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.9859T>C																																																																																					PASS	0.493	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		122	15	122	15	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216990	78216990	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:78216990C>A	ENST00000171757.2	+	4	1253	c.973C>A	c.(973-975)Cgc>Agc	p.R325S	P2RY10_ENST00000544091.1_Missense_Mutation_p.R325S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R325S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTCTGTGACCCGCTCCCGCCT	0.438																																						uc004ede.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(973-975)CGC>AGC		G-protein coupled purinergic receptor P2Y10							102.0	98.0	99.0					X																	78216990		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216990C>A	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.973C>A	X.37:g.78216990C>A	ENSP00000171757:p.Arg325Ser					P2RY10_uc004edf.2_Missense_Mutation_p.R325S	p.R325S	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1342	+			325			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.973C>A	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266500	0.40095	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.66638	-0.22;-0.22	4.89	4.89	0.63831	.	0.942570	0.08801	N	0.891709	T	0.50222	0.1603	N	0.14661	0.345	0.38462	D	0.947233	B	0.31910	0.346	B	0.28385	0.089	T	0.37267	-0.9713	10	0.12430	T	0.62	.	15.6329	0.76926	0.0:1.0:0.0:0.0	.	325	O00398	P2Y10_HUMAN	S	325	ENSP00000443138:R325S;ENSP00000171757:R325S	ENSP00000171757:R325S	R	+	1	0	P2RY10	78103646	0.967000	0.33354	0.990000	0.47175	0.960000	0.62799	1.921000	0.40035	2.254000	0.74563	0.597000	0.82753	CGC		PASS	0.438	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			266	36	266	36	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110435802	110435802	+	Silent	SNP	C	C	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:110435802C>T	ENST00000372010.1	+	14	1435	c.993C>T	c.(991-993)gtC>gtT	p.V331V	PAK3_ENST00000372007.5_Silent_p.V316V|PAK3_ENST00000262836.4_Silent_p.V331V|PAK3_ENST00000518291.1_Silent_p.V352V|PAK3_ENST00000425146.1_Silent_p.V316V|PAK3_ENST00000446737.1_Silent_p.V316V|PAK3_ENST00000417227.1_Silent_p.V337V|PAK3_ENST00000360648.4_Silent_p.V352V|PAK3_ENST00000519681.1_Silent_p.V337V			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V352V(1)|p.V316V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATTCTGGTCATGAGGGAAA	0.299										TSP Lung(19;0.15)																												uc004epa.2																			2	Substitution - coding silent(2)		lung(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(991-993)GTC>GTT		p21-activated kinase 3 isoform d							41.0	41.0	41.0					X																	110435802		2203	4295	6498	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110435802C>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.993C>T	X.37:g.110435802C>T		TSP Lung(19;0.15)				PAK3_uc010npt.1_Silent_p.V316V|PAK3_uc010npu.1_Silent_p.V316V|PAK3_uc004eoy.1_Silent_p.V71V|PAK3_uc004eoz.2_Silent_p.V316V|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.V352V|PAK3_uc010npw.1_Silent_p.V337V	p.V331V	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			10	1020	+			331			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.993C>T	CCDS48153.1																																																																																				PASS	0.299	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		17	73	17	73	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118230556	118230556	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:118230556G>T	ENST00000402510.2	-	8	1166	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	389								p.F389L(1)|p.F249L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGGGGTGCTGAAACCAATGG	0.498																																						uc004era.3																			2	Substitution - Missense(2)	p.G389D(1)	lung(2)	ovary(4)|skin(1)	5						c.(1165-1167)TTC>TTA		hypothetical protein LOC57481							78.0	80.0	79.0					X																	118230556		2049	4177	6226	SO:0001583	missense	57481							g.chrX:118230556G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1167C>A	X.37:g.118230556G>T	ENSP00000384670:p.Phe389Leu						p.F389L	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			8	1167	-			389					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1167C>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919680	0.52653	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.50813	0.73	4.75	0.984	0.19773	.	.	.	.	.	T	0.47210	0.1433	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36578	-0.9742	9	0.87932	D	0	.	7.3089	0.26463	0.4039:0.0:0.5961:0.0	.	389	Q9ULL0	K1210_HUMAN	L	389;225	ENSP00000384670:F389L	ENSP00000396164:F225L	F	-	3	2	RP13-347D8.5;RP13-347D8.6	118114584	0.482000	0.25948	0.016000	0.15963	0.010000	0.07245	0.248000	0.18198	-0.059000	0.13154	-0.180000	0.13094	TTC		PASS	0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		57	7	57	7	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138857060	138857060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:138857060T>A	ENST00000327569.3	-	19	2112	c.2014A>T	c.(2014-2016)Aaa>Taa	p.K672*	ATP11C_ENST00000370543.1_Nonsense_Mutation_p.K672*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.K672*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.K672*|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.K669*|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	672					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K672*(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACCCAGACTTTCAGGCCTGCT	0.488																																						uc004faz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(2014-2016)AAA>TAA		ATPase, class VI, type 11C isoform a							106.0	92.0	97.0					X																	138857060		2203	4300	6503	SO:0001587	stop_gained	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138857060T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2014A>T	X.37:g.138857060T>A	ENSP00000332756:p.Lys672*					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Nonsense_Mutation_p.K672*	p.K672*	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			19	2113	-	Acute lymphoblastic leukemia(192;0.000127)		672			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	c.2014A>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	41	9.097249	0.99064	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3053	0.66380	0.0:0.0:0.0:1.0	.	.	.	.	X	669;672;672;672;672	.	ENSP00000332756:K672X	K	-	1	0	ATP11C	138684726	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	1.977000	0.57605	0.430000	0.28490	AAA		PASS	0.488	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		26	125	26	125	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038093	139038093	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:139038093A>T	ENST00000370540.1	-	3	1071	c.1048T>A	c.(1048-1050)Tac>Aac	p.Y350N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	350						integral component of membrane (GO:0016021)		p.Y350N(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACTTGATTGTACCCTCTGTCA	0.353																																						uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)TAC>AAC		hypothetical protein LOC347487 precursor							143.0	113.0	123.0					X																	139038093		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038093A>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.1048T>A	X.37:g.139038093A>T	ENSP00000359571:p.Tyr350Asn						p.Y350N	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	1070	-			350			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.1048T>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057322	0.19907	.	.	ENSG00000203933	ENST00000370540	T	0.40225	1.04	3.85	-7.69	0.01263	.	2.867860	0.01116	N	0.005693	T	0.22781	0.0550	N	0.14661	0.345	0.09310	N	1	P	0.41910	0.764	B	0.37091	0.241	T	0.35301	-0.9794	9	.	.	.	14.4818	9.2853	0.37753	0.1722:0.0:0.649:0.1788	.	350	Q5JRM2	CX066_HUMAN	N	350	ENSP00000359571:Y350N	.	Y	-	1	0	CXorf66	138865759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.261000	0.01176	-2.886000	0.00317	-0.456000	0.05471	TAC		PASS	0.353	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		90	26	90	26	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144329181	144329181	+	Splice_Site	SNP	G	G	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:144329181G>T	ENST00000370493.3	+	1	834	c.75G>T	c.(73-75)gaG>gaT	p.E25D		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	25								p.E25D(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AAAATGATGAGGTAAGATtgt	0.453																																						uc004fcb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(73-75)GAG>GAT		SPANX-N1 protein							213.0	180.0	191.0					X																	144329181		2203	4299	6502	SO:0001630	splice_region_variant	494118							g.chrX:144329181G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.75+1G>T	X.37:g.144329181G>T							p.E25D	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			1	75	+	Acute lymphoblastic leukemia(192;6.56e-05)		25						Missense_Mutation	SNP	ENST00000370493.3	37	c.75G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	G	7.201	0.593575	0.13875	.	.	ENSG00000203923	ENST00000370493	T	0.08008	3.14	.	.	.	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.46823	D	0.999218	P	0.43938	0.822	P	0.48488	0.579	T	0.20571	-1.0271	6	0.27785	T	0.31	.	.	.	.	.	25	Q5VSR9	SPXN1_HUMAN	D	25	ENSP00000359524:E25D	ENSP00000359524:E25D	E	+	3	2	SPANXN1	144136873	0.076000	0.21285	0.177000	0.23020	0.179000	0.23085	0.331000	0.19733	0.054000	0.16065	0.054000	0.15206	GAG		PASS	0.453	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Missense_Mutation	179	53	179	53	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092185	151092185	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:151092185G>C	ENST00000360243.2	+	3	316	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	MAGEA4_ENST00000393920.1_Missense_Mutation_p.E17Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E17Q|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E17Q|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E17Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E17Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E17Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	17								p.E17Q(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGGCGTTGAGGCCCAAGA	0.602																																						uc004fez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(49-51)GAG>CAG		melanoma antigen family A, 4							47.0	46.0	47.0					X																	151092185		2203	4299	6502	SO:0001583	missense	4103						protein binding	g.chrX:151092185G>C		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.49G>C	X.37:g.151092185G>C	ENSP00000353379:p.Glu17Gln					MAGEA4_uc004ffa.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffb.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffc.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffd.2_Missense_Mutation_p.E17Q	p.E17Q	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	205	+	Acute lymphoblastic leukemia(192;6.56e-05)		17					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.49G>C	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.067001	0.00382	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.01963	4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53	2.2	-4.39	0.03611	Melanoma associated antigen, MAGE, N-terminal (1);	2.518480	0.01680	N	0.026069	T	0.01353	0.0044	N	0.11870	0.19	0.09310	N	1	B	0.25169	0.119	B	0.31812	0.136	T	0.40794	-0.9544	10	0.02654	T	1	.	1.7486	0.02967	0.1432:0.1748:0.4208:0.2613	.	17	P43358	MAGA4_HUMAN	Q	17	ENSP00000387777:E17Q;ENSP00000276344:E17Q;ENSP00000391904:E17Q;ENSP00000377498:E17Q;ENSP00000394149:E17Q;ENSP00000359362:E17Q;ENSP00000402624:E17Q;ENSP00000377497:E17Q;ENSP00000359365:E17Q;ENSP00000394073:E17Q;ENSP00000400900:E17Q;ENSP00000402186:E17Q;ENSP00000359360:E17Q;ENSP00000353379:E17Q;ENSP00000390096:E17Q	ENSP00000276344:E17Q	E	+	1	0	MAGEA4	150842841	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.152000	0.01288	-1.992000	0.00975	-0.545000	0.04230	GAG		PASS	0.602	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		13	112	13	112	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870230	151870230	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:151870230G>C	ENST00000329342.5	+	3	1145	c.920G>C	c.(919-921)tGg>tCg	p.W307S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	307	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.W307S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATGAGTGGGCTTTGAGA	0.577																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)TGG>TCG		melanoma antigen family A, 6							108.0	107.0	107.0					X																	151870230		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151870230G>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.920G>C	X.37:g.151870230G>C	ENSP00000329199:p.Trp307Ser					MAGEA6_uc004ffr.1_Missense_Mutation_p.W307S|MAGEA2_uc010nto.2_Intron	p.W307S	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1114	+	Acute lymphoblastic leukemia(192;6.56e-05)		307			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.920G>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	2.277	-0.365616	0.05069	.	.	ENSG00000197172	ENST00000329342	T	0.01495	4.83	0.879	-1.49	0.08718	.	.	.	.	.	T	0.01905	0.0060	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42999	-0.9418	9	0.72032	D	0.01	.	4.0794	0.09919	0.5156:0.0:0.4844:0.0	.	307	P43360	MAGA6_HUMAN	S	307	ENSP00000329199:W307S	ENSP00000329199:W307S	W	+	2	0	MAGEA6	151620886	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.013000	0.01450	-0.723000	0.04915	0.181000	0.17075	TGG		PASS	0.577	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		249	44	249	44	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152818709	152818709	+	Silent	SNP	G	G	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrX:152818709G>A	ENST00000349466.2	+	12	2366	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	ATP2B3_ENST00000393842.1_Silent_p.E666E|ATP2B3_ENST00000359149.3_Silent_p.E680E|ATP2B3_ENST00000370186.1_Silent_p.E666E|ATP2B3_ENST00000263519.4_Silent_p.E680E|ATP2B3_ENST00000370181.2_Silent_p.E666E			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	680					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E680E(3)|p.E666E(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCATTGAGGACCCTGTGC	0.642																																						uc004fht.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(2038-2040)GAG>GAA		plasma membrane calcium ATPase 3 isoform 3b							103.0	61.0	75.0					X																	152818709		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818709G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2040G>A	X.37:g.152818709G>A						ATP2B3_uc004fhs.1_Silent_p.E680E	p.E680E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2166	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		680			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2040G>A	CCDS35440.1																																																																																				PASS	0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		13	126	13	126	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4967120	4967120	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chrY:4967120T>A	ENST00000333703.4	+	5	1981	c.1468T>A	c.(1468-1470)Tct>Act	p.S490T	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S501T|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S501T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	501	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S501T(2)|p.S490T(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTCACCCAGTCTTTCGTAAC	0.433																																						uc004fqo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1501-1503)TCT>ACT		protocadherin 11 Y-linked isoform c							43.0	35.0	37.0					Y																	4967120		624	1978	2602	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967120T>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1468T>A	Y.37:g.4967120T>A	ENSP00000330552:p.Ser490Thr					PCDH11Y_uc010nwg.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fql.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S501T|PCDH11Y_uc004fqp.1_Missense_Mutation_p.S272T	p.S501T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	2235	+			501			Cadherin 5.|Extracellular (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1501T>A	CCDS14776.1																																																																																				PASS	0.433	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		51	23	51	23	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					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.G197delG(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)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					uc010pyd.1																			1	Deletion - In frame(1)		prostate(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(160-162)GGCdel		formin 2																																				SO:0001651	inframe_deletion	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.chr1:240255569_240255571delGGC	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.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del					FMN2_uc010pye.1_In_Frame_Del_p.G59del	p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	385_387	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																					0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	5	6	5	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						uc001lty.2																			0				lung(1)	1						c.(121-129)GGCTGTGGAdel		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47_49					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																					0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			32	38	32	38	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600448	10600449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-33-4532-01A-01D-1267-08	TCGA-33-4532-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c8baeba2-2a73-41d7-9226-b89a8f42e18f	8f754086-e8c4-4f80-bdb5-50b62ef8bbf4	g.chr19:10600448_10600449insT	ENST00000171111.5	-	4	1953_1954	c.1406_1407insA	c.(1405-1407)aatfs	p.N469fs	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.N469fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	469					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AAAGGAGACGATTGAGGACAGC	0.554																																						uc002moq.1																			0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1405-1407)AATfs		kelch-like ECH-associated protein 1																																				SO:0001589	frameshift_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600448_10600449insT	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1407dupA	19.37:g.10600450_10600450dupT	ENSP00000171111:p.Asn469fs					KEAP1_uc002mop.1_Frame_Shift_Ins_p.N187fs|KEAP1_uc002mor.1_Frame_Shift_Ins_p.N469fs	p.N469fs	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1562_1563	-			469			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Frame_Shift_Ins	INS	ENST00000171111.5	37	c.1406_1407insA	CCDS12239.1																																																																																					0.554	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		38	55	38	55	---	---	---	---
