#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
AJAP1	55966	broad.mit.edu	37	1	4772135	4772135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:4772135G>T	ENST00000378191.4	+	2	586	c.205G>T	c.(205-207)Gga>Tga	p.G69*	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Nonsense_Mutation_p.G69*	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	69					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G69*(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TTTTAGGAGTGGACAGCCAGC	0.761																																						uc001alm.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(205-207)GGA>TGA		adherens junction associated protein 1							12.0	17.0	16.0					1																	4772135		1708	3688	5396	SO:0001587	stop_gained	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772135G>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.205G>T	1.37:g.4772135G>T	ENSP00000367433:p.Gly69*					AJAP1_uc001aln.2_Nonsense_Mutation_p.G69*	p.G69*	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	586	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	69			Extracellular (Potential).		Q9Y229	Nonsense_Mutation	SNP	ENST00000378191.4	37	c.205G>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903238	0.97087	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	.	.	.	5.08	5.08	0.68730	.	0.336049	0.28161	N	0.016380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-5.5729	13.9496	0.64109	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000367432:G69X	G	+	1	0	AJAP1	4671995	1.000000	0.71417	0.976000	0.42696	0.128000	0.20619	6.947000	0.75959	2.322000	0.78497	0.563000	0.77884	GGA		PASS	0.761	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		10	20	10	20	---	---	---	---
PRAMEF2	65122	broad.mit.edu	37	1	12918947	12918947	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:12918947T>A	ENST00000240189.2	+	2	170	c.83T>A	c.(82-84)aTg>aAg	p.M28K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	28					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.M28K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTGCCATGGAGGAGCTG	0.607																																						uc001aum.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)ATG>AAG		PRAME family member 2							94.0	104.0	100.0					1																	12918947		2201	4293	6494	SO:0001583	missense	65122							g.chr1:12918947T>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.83T>A	1.37:g.12918947T>A	ENSP00000240189:p.Met28Lys						p.M28K	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	170	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	28						Missense_Mutation	SNP	ENST00000240189.2	37	c.83T>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	t	7.060	0.566233	0.13560	.	.	ENSG00000120952	ENST00000240189	T	0.04862	3.54	0.842	0.842	0.18927	.	0.206543	0.30269	N	0.010012	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.19331	0.035	B	0.24541	0.054	T	0.34925	-0.9809	10	0.87932	D	0	.	3.9732	0.09462	0.0:0.0:0.0:1.0	.	28	O60811	PRAM2_HUMAN	K	28	ENSP00000240189:M28K	ENSP00000240189:M28K	M	+	2	0	PRAMEF2	12841534	0.014000	0.17966	0.003000	0.11579	0.012000	0.07955	1.733000	0.38156	0.633000	0.30452	0.163000	0.16589	ATG		PASS	0.607	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		45	167	45	167	---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29438932	29438932	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:29438932C>T	ENST00000343067.4	+	19	2595	c.2468C>T	c.(2467-2469)aCa>aTa	p.T823I	EPB41_ENST00000347529.3_Missense_Mutation_p.T734I|EPB41_ENST00000356093.2_Missense_Mutation_p.T790I|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.T823I|EPB41_ENST00000349460.4_Missense_Mutation_p.T600I|EPB41_ENST00000373800.3_Missense_Mutation_p.T547I|EPB41_ENST00000398863.2_Missense_Mutation_p.T726I	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	823	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T600I(1)|p.T823I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTGTGATCACAGGAGATGCT	0.448																																						uc001brm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2467-2469)ACA>ATA		erythrocyte membrane protein band 4.1							145.0	133.0	137.0					1																	29438932		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29438932C>T	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2468C>T	1.37:g.29438932C>T	ENSP00000345259:p.Thr823Ile					EPB41_uc001brg.1_Missense_Mutation_p.T600I|EPB41_uc001brh.1_Missense_Mutation_p.T547I|EPB41_uc001bri.1_Missense_Mutation_p.T734I|EPB41_uc001brj.1_Missense_Mutation_p.T560I|EPB41_uc001brl.1_Missense_Mutation_p.T790I|EPB41_uc009vtl.1_Missense_Mutation_p.T517I|EPB41_uc009vtm.1_Missense_Mutation_p.T402I|EPB41_uc009vtn.1_RNA	p.T823I	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	18	2475	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	823			Carboxyl-terminal (CTD).		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.2468C>T	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761698	0.89932	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.73	5.73	0.89815	Band 4.1, C-terminal (1);	0.046405	0.85682	D	0.000000	D	0.92260	0.7545	M	0.85710	2.77	0.54753	D	0.999987	P;D;D;D;D;D;D;D	0.89917	0.642;1.0;0.999;1.0;1.0;1.0;0.999;1.0	P;D;D;D;D;D;D;D	0.97110	0.574;1.0;0.988;1.0;1.0;1.0;0.994;0.994	D	0.92934	0.6366	10	0.87932	D	0	.	18.4669	0.90758	0.0:1.0:0.0:0.0	.	663;726;823;790;786;734;547;600	E9PEX0;E9PEW9;P11171;P11171-2;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.	I	786;823;790;726;663;600;547;734;823	ENSP00000345259:T823I;ENSP00000348397:T790I;ENSP00000381839:T726I;ENSP00000317597:T600I;ENSP00000362906:T547I;ENSP00000290100:T734I;ENSP00000362904:T823I	ENSP00000345259:T823I	T	+	2	0	EPB41	29311519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.801000	0.69115	2.710000	0.92621	0.561000	0.74099	ACA		PASS	0.448	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		35	97	35	97	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89652777	89652777	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:89652777C>A	ENST00000355754.6	-	9	1516	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	473						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E473D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTGGAGGACCTCGTTTGCCT	0.473																																						uc001dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)GAG>GAT		guanylate binding protein 4							116.0	100.0	105.0					1																	89652777		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652777C>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1419G>T	1.37:g.89652777C>A	ENSP00000359490:p.Glu473Asp						p.E473D	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	9	1535	-			473					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1419G>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610879	0.28712	.	.	ENSG00000162654	ENST00000355754	T	0.02552	4.25	4.3	-4.38	0.03622	Guanylate-binding protein, C-terminal (3);	0.128671	0.49916	D	0.000130	T	0.02304	0.0071	M	0.91920	3.255	0.09310	N	1	P	0.34562	0.457	B	0.41510	0.359	T	0.10917	-1.0609	10	0.54805	T	0.06	.	4.1382	0.10181	0.3889:0.1924:0.0:0.4187	.	473	Q96PP9	GBP4_HUMAN	D	473	ENSP00000359490:E473D	ENSP00000359490:E473D	E	-	3	2	GBP4	89425365	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.987000	0.03743	-1.130000	0.02914	0.561000	0.74099	GAG		PASS	0.473	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		20	92	20	92	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118534064	118534064	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:118534064C>T	ENST00000336338.5	-	37	5514	c.5449G>A	c.(5449-5451)Gct>Act	p.A1817T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1817						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.A1817T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATCAGCAGCATTGCCTCTC	0.363																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5449-5451)GCT>ACT		sperm associated antigen 17							155.0	133.0	141.0					1																	118534064		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118534064C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5449G>A	1.37:g.118534064C>T	ENSP00000337804:p.Ala1817Thr						p.A1817T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	37	5517	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1817					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5449G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642493	0.67244	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.26810	1.71	4.89	4.89	0.63831	.	0.382224	0.30483	N	0.009522	T	0.32912	0.0845	L	0.55834	1.745	0.29636	N	0.845109	D	0.76494	0.999	D	0.78314	0.991	T	0.06391	-1.0829	10	0.72032	D	0.01	.	12.1051	0.53807	0.1719:0.8281:0.0:0.0	.	1817	Q6Q759	SPG17_HUMAN	T	1817;297	ENSP00000337804:A1817T	ENSP00000337804:A1817T	A	-	1	0	SPAG17	118335587	1.000000	0.71417	0.950000	0.38849	0.769000	0.43574	3.150000	0.50662	2.532000	0.85374	0.655000	0.94253	GCT		PASS	0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		31	86	31	86	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120506351	120506351	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:120506351A>G	ENST00000256646.2	-	11	1980	c.1761T>C	c.(1759-1761)ggT>ggC	p.G587G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	587	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.G587G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAATCAATACCATCCTGAC	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - coding silent(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1759-1761)GGT>GGC		notch 2 preproprotein							221.0	204.0	210.0					1																	120506351		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120506351A>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1761T>C	1.37:g.120506351A>G						NOTCH2_uc001eil.2_Silent_p.G587G|NOTCH2_uc001eim.3_Silent_p.G504G	p.G587G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2017	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	587			Extracellular (Potential).|EGF-like 15; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.1761T>C	CCDS908.1																																																																																				PASS	0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		27	288	27	288	---	---	---	---
DCST1	149095	broad.mit.edu	37	1	155007172	155007172	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:155007172A>G	ENST00000295542.1	+	4	327	c.231A>G	c.(229-231)gaA>gaG	p.E77E	DCST1_ENST00000423025.2_Intron|DCST1_ENST00000392480.1_Silent_p.E77E|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000368419.2_Silent_p.E77E	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	77						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E77E(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTACGAAGAACAGAAGATTA	0.542																																						uc001fgn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)GAA>GAG		DC-STAMP domain containing 1 isoform 1							149.0	139.0	143.0					1																	155007172		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155007172A>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.231A>G	1.37:g.155007172A>G						DCST2_uc001fgm.2_5'Flank|DCST2_uc009wpb.2_5'Flank|DCST1_uc010per.1_Silent_p.E102E|DCST1_uc010pes.1_Intron	p.E77E	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		4	327	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		77			Extracellular (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.231A>G	CCDS1083.1																																																																																				PASS	0.542	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		130	123	130	123	---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155231452	155231452	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:155231452C>T	ENST00000302631.3	-	2	247	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	SCAMP3_ENST00000355379.3_Intron|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	47					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.R47Q(1)|p.R47P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTCACCTCCCGGGTCTCAAA	0.572																																						uc001fjs.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(139-141)CGG>CAG		secretory carrier membrane protein 3 isoform 1							127.0	113.0	117.0					1																	155231452		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155231452C>T	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.140G>A	1.37:g.155231452C>T	ENSP00000307275:p.Arg47Gln					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fju.2_Missense_Mutation_p.R47Q|SCAMP3_uc001fjv.2_Missense_Mutation_p.R47Q|SCAMP3_uc001fjt.2_Intron	p.R47Q	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	393	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		47			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.140G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.851314	0.32699	.	.	ENSG00000116521	ENST00000302631	T	0.13420	2.59	5.34	1.42	0.22433	.	0.367121	0.27846	N	0.017603	T	0.01661	0.0053	N	0.22421	0.69	0.80722	D	1	B;B	0.19073	0.001;0.033	B;B	0.06405	0.001;0.002	T	0.45381	-0.9265	10	0.02654	T	1	-6.3118	4.7735	0.13167	0.0:0.587:0.1563:0.2567	.	47;47	Q6FHJ5;O14828	.;SCAM3_HUMAN	Q	47	ENSP00000307275:R47Q	ENSP00000307275:R47Q	R	-	2	0	SCAMP3	153498076	0.010000	0.17322	0.975000	0.42487	0.974000	0.67602	0.113000	0.15499	0.106000	0.17784	-0.137000	0.14449	CGG		PASS	0.572	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		135	121	135	121	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158632626	158632626	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:158632626G>A	ENST00000368147.4	-	17	2510	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	777					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A777V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTTTCAGAGCTTCAAATCG	0.473																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2329-2331)GCT>GTT		spectrin, alpha, erythrocytic 1							96.0	96.0	96.0					1																	158632626		1908	4127	6035	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632626G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2330C>T	1.37:g.158632626G>A	ENSP00000357129:p.Ala777Val						p.A777V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			17	2529	-	all_hematologic(112;0.0378)		777			Spectrin 8.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2330C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338034	0.41398	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	4.41	1.39	0.22231	.	0.585291	0.12945	N	0.426259	T	0.44912	0.1316	M	0.72894	2.215	0.36577	D	0.873325	P	0.49559	0.925	P	0.59424	0.857	T	0.40942	-0.9536	10	0.27082	T	0.32	.	8.4768	0.33018	0.0:0.3193:0.5156:0.1651	.	777	P02549	SPTA1_HUMAN	V	777	ENSP00000357130:A777V;ENSP00000357129:A777V	ENSP00000357129:A777V	A	-	2	0	SPTA1	156899250	0.947000	0.32204	0.917000	0.36280	0.216000	0.24613	1.164000	0.31810	0.110000	0.17919	0.655000	0.94253	GCT		PASS	0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		86	69	86	69	---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161790926	161790926	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:161790926A>G	ENST00000367942.3	+	9	1229	c.1162A>G	c.(1162-1164)Ata>Gta	p.I388V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	388					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I388V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ATTGGCATTTATAATACTGAA	0.318																																						uc001gbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1162-1164)ATA>GTA		activating transcription factor 6							156.0	160.0	159.0					1																	161790926		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161790926A>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1162A>G	1.37:g.161790926A>G	ENSP00000356919:p.Ile388Val					ATF6_uc001gbq.1_Missense_Mutation_p.I388V	p.I388V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1229	+	all_hematologic(112;0.156)		388			Helical; Signal-anchor for type II membrane protein; (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1162A>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	6.123	0.390868	0.11581	.	.	ENSG00000118217	ENST00000367942	T	0.14144	2.53	4.7	-4.94	0.03057	.	0.676368	0.15374	N	0.265688	T	0.02610	0.0079	L	0.37561	1.115	0.31616	N	0.6508590000000001	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50127	-0.8864	9	0.08179	T	0.78	-24.2647	14.5496	0.68057	0.2094:0.0:0.7906:0.0	.	388;389	P18850;Q59H30	ATF6A_HUMAN;.	V	388	ENSP00000356919:I388V	ENSP00000356919:I388V	I	+	1	0	ATF6	160057550	0.021000	0.18746	0.117000	0.21633	0.998000	0.95712	-0.490000	0.06482	-0.952000	0.03649	0.477000	0.44152	ATA		PASS	0.318	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		6	229	6	229	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525526	176525526	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:176525526A>T	ENST00000367662.3	+	2	1232	c.68A>T	c.(67-69)aAc>aTc	p.N23I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N23I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	23					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N23I(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTTCTGCCAACTCTGAGCTG	0.512																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(67-69)AAC>ATC		pappalysin 2 isoform 1							99.0	100.0	100.0					1																	176525526		2023	4195	6218	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525526A>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.68A>T	1.37:g.176525526A>T	ENSP00000356634:p.Asn23Ile					PAPPA2_uc001gky.1_Missense_Mutation_p.N23I|PAPPA2_uc009www.2_RNA	p.N23I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1232	+			23					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.68A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	7.567	0.665958	0.14710	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31769	4.72;1.48	4.82	-3.16	0.05217	.	0.876206	0.09548	U	0.787289	T	0.20210	0.0486	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.27872	-1.0061	10	0.72032	D	0.01	-0.7691	5.3977	0.16278	0.6462:0.0:0.2114:0.1424	.	23;23	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	I	23	ENSP00000356634:N23I;ENSP00000356633:N23I	ENSP00000356633:N23I	N	+	2	0	PAPPA2	174792149	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	-0.125000	0.10579	-0.805000	0.04404	-1.590000	0.00845	AAC		PASS	0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			155	162	155	162	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564569	176564569	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:176564569G>T	ENST00000367662.3	+	3	2993	c.1829G>T	c.(1828-1830)gGt>gTt	p.G610V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G610V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	610	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G610V(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TATGATGGGGGTGACTGCCGC	0.587																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1828-1830)GGT>GTT		pappalysin 2 isoform 1							74.0	80.0	78.0					1																	176564569		2099	4228	6327	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564569G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1829G>T	1.37:g.176564569G>T	ENSP00000356634:p.Gly610Val					PAPPA2_uc001gky.1_Missense_Mutation_p.G610V|PAPPA2_uc009www.2_RNA	p.G610V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2993	+			610			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1829G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200559	0.79015	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.93811	-3.29;-3.29	5.42	5.42	0.78866	Notch domain (2);	0.113792	0.64402	D	0.000015	D	0.96352	0.8810	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96682	0.9504	10	0.87932	D	0	-18.3533	18.8444	0.92198	0.0:0.0:1.0:0.0	.	610;610	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	610	ENSP00000356634:G610V;ENSP00000356633:G610V	ENSP00000356633:G610V	G	+	2	0	PAPPA2	174831192	1.000000	0.71417	0.959000	0.39883	0.752000	0.42762	9.689000	0.98673	2.542000	0.85734	0.650000	0.86243	GGT		PASS	0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			73	55	73	55	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186277633	186277633	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:186277633C>A	ENST00000445192.2	+	7	2827	c.2782C>A	c.(2782-2784)Cct>Act	p.P928T	PRG4_ENST00000367485.4_Missense_Mutation_p.P835T|PRG4_ENST00000367484.3_Missense_Mutation_p.P457T|PRG4_ENST00000367483.4_Missense_Mutation_p.P887T|PRG4_ENST00000367486.3_Missense_Mutation_p.P885T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	928					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.P928T(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						ACGTACTACACCTGAAACTAC	0.413																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2782-2784)CCT>ACT		proteoglycan 4 isoform A							223.0	229.0	227.0					1																	186277633		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277633C>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.2782C>A	1.37:g.186277633C>A	ENSP00000399679:p.Pro928Thr					PRG4_uc001grt.3_Missense_Mutation_p.P887T|PRG4_uc009wyl.2_Missense_Mutation_p.P835T|PRG4_uc009wym.2_Missense_Mutation_p.P794T|PRG4_uc010poo.1_RNA	p.P928T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2833	+			928					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2782C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	4.699	0.130058	0.08981	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04551	3.62;3.6;3.75;3.62;3.73	2.69	-1.07	0.09968	.	0.635159	0.13063	N	0.416725	T	0.03608	0.0103	L	0.39898	1.24	0.09310	N	0.999999	B;B;B;B	0.23891	0.093;0.035;0.02;0.035	B;B;B;B	0.17433	0.018;0.01;0.004;0.01	T	0.40608	-0.9554	10	0.36615	T	0.2	0.0292	2.9447	0.05842	0.4445:0.328:0.1306:0.0969	.	794;835;928;887	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	885;457;794;887;835;928	ENSP00000356456:P885T;ENSP00000356454:P457T;ENSP00000356453:P887T;ENSP00000356455:P835T;ENSP00000399679:P928T	ENSP00000356452:P794T	P	+	1	0	PRG4	184544256	0.000000	0.05858	0.007000	0.13788	0.239000	0.25481	-1.130000	0.03241	-0.367000	0.08052	0.423000	0.28283	CCT		PASS	0.413	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	282	5	282	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201196167	201196167	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:201196167C>A	ENST00000335211.4	+	23	11074	c.10944C>A	c.(10942-10944)ttC>ttA	p.F3648L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1191						nucleus (GO:0005634)|Z disc (GO:0030018)		p.F3648L(1)|p.F808L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCACCTGGTTCAAGAATGACC	0.677																																						uc001gwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2422-2424)TTC>TTA		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							64.0	52.0	56.0					1																	201196167		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201196167C>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10944C>A	1.37:g.201196167C>A	ENSP00000334714:p.Phe3648Leu					IGFN1_uc001gwb.2_RNA	p.F808L	NM_178275	NP_840059					12	3196	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.2424C>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.358185|4.358185	0.82243|0.82243	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|.	0.71222|.	-0.55|.	5.06|5.06	4.14|4.14	0.48551|0.48551	.|.	0.394252|.	0.26601|.	N|.	0.023479|.	T|T	0.43344|0.43344	0.1243|0.1243	N|N	0.21617|0.21617	0.685|0.685	0.80722|0.80722	D|D	1|1	P|.	0.35923|.	0.528|.	B|.	0.42282|.	0.382|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.59425|.	D|.	0.04|.	.|.	10.8064|10.8064	0.46520|0.46520	0.0:0.9119:0.0:0.0881|0.0:0.9119:0.0:0.0881	.|.	3648|.	F8WAI1|.	.|.	L|K	3648|1066	ENSP00000334714:F3648L|.	ENSP00000334714:F3648L|.	F|Q	+|+	3|1	2|0	IGFN1|IGFN1	199462790|199462790	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.829000|0.829000	0.46940|0.46940	2.599000|2.599000	0.46231|0.46231	1.129000|1.129000	0.42072|0.42072	0.561000|0.561000	0.74099|0.74099	TTC|CAA		PASS	0.677	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		78	66	78	66	---	---	---	---
DTL	51514	broad.mit.edu	37	1	212273761	212273761	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:212273761C>T	ENST00000366991.4	+	14	1743	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	DTL_ENST00000542077.1_Missense_Mutation_p.R435W|RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	477					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R477W(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TGCCAAGGCCCGGTCTCCCAT	0.532																																						uc009xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1429-1431)CGG>TGG		denticleless homolog							95.0	98.0	97.0					1																	212273761		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212273761C>T	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1429C>T	1.37:g.212273761C>T	ENSP00000355958:p.Arg477Trp					DTL_uc010ptb.1_Missense_Mutation_p.R435W|DTL_uc001hiz.3_Missense_Mutation_p.R206W	p.R477W	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	1743	+			477					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1429C>T	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552269	0.45487	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71934	-0.54;-0.61	5.55	1.62	0.23740	.	0.735550	0.13372	N	0.392870	T	0.57475	0.2056	L	0.36672	1.1	0.09310	N	1	D;D;D	0.60160	0.987;0.983;0.978	B;B;B	0.43123	0.409;0.296;0.232	T	0.51284	-0.8725	10	0.72032	D	0.01	-22.5506	5.1742	0.15126	0.1336:0.5277:0.0:0.3387	.	435;477;435	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	W	477;435;156	ENSP00000355958:R477W;ENSP00000443870:R435W	ENSP00000355958:R477W	R	+	1	2	DTL	210340384	0.167000	0.22975	0.002000	0.10522	0.865000	0.49528	1.262000	0.32992	0.113000	0.18004	0.655000	0.94253	CGG		PASS	0.532	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		22	168	22	168	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:216737608G>A	ENST00000408911.3	-	5	968	c.815C>T	c.(814-816)gCc>gTc	p.A272V	ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(814-816)GCC>GTC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						178.0	156.0	163.0					1																	216737608		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737608G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.815C>T	1.37:g.216737608G>A	ENSP00000386171:p.Ala272Val					ESRRG_uc001hky.1_Missense_Mutation_p.A249V|ESRRG_uc009xdp.1_Missense_Mutation_p.A249V|ESRRG_uc001hkz.1_Missense_Mutation_p.A210V|ESRRG_uc010puc.1_Missense_Mutation_p.A249V|ESRRG_uc001hla.1_Missense_Mutation_p.A249V|ESRRG_uc001hlb.1_Missense_Mutation_p.A249V|ESRRG_uc010pud.1_Missense_Mutation_p.A80V|ESRRG_uc001hlc.1_Missense_Mutation_p.A249V|ESRRG_uc001hld.1_Missense_Mutation_p.A249V|ESRRG_uc001hkx.1_Missense_Mutation_p.A284V|ESRRG_uc009xdo.1_Missense_Mutation_p.A249V|ESRRG_uc001hle.1_Missense_Mutation_p.A249V	p.A272V	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	981	-			272					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.815C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	ESRRG	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC		PASS	0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		4	210	4	210	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232575068	232575068	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:232575068T>C	ENST00000366630.1	-	14	4175	c.3817A>G	c.(3817-3819)Atg>Gtg	p.M1273V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1273V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M347V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1273					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.M1273V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGGCAGGCATGCAGGGGGCC	0.657																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3817-3819)ATG>GTG		signal-induced proliferation-associated 1 like							41.0	45.0	44.0					1																	232575068		2045	4204	6249	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232575068T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3817A>G	1.37:g.232575068T>C	ENSP00000355589:p.Met1273Val					SIPA1L2_uc001hvf.2_Missense_Mutation_p.M347V	p.M1273V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			13	3975	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1273					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3817A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	6.122	0.390812	0.11581	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.77877	-1.13;-1.13;2.79	5.39	0.354	0.16063	.	0.345440	0.34268	N	0.004104	T	0.64638	0.2616	L	0.54323	1.7	0.32600	N	0.526098	B;B	0.25809	0.0;0.135	B;B	0.21151	0.0;0.033	T	0.56341	-0.7995	10	0.16420	T	0.52	-18.6765	6.3316	0.21272	0.0:0.1344:0.2748:0.5908	.	1273;347	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1273;1273;347	ENSP00000355589:M1273V;ENSP00000262861:M1273V;ENSP00000309102:M347V	ENSP00000262861:M1273V	M	-	1	0	SIPA1L2	230641691	1.000000	0.71417	0.100000	0.21137	0.812000	0.45895	1.133000	0.31430	-0.094000	0.12374	0.528000	0.53228	ATG		PASS	0.657	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		9	107	9	107	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777577	237777577	+	Missense_Mutation	SNP	G	G	T	rs547829995		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr1:237777577G>T	ENST00000366574.2	+	37	5466	c.5149G>T	c.(5149-5151)Gcc>Tcc	p.A1717S	RYR2_ENST00000542537.1_Missense_Mutation_p.A1701S|RYR2_ENST00000360064.6_Missense_Mutation_p.A1715S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1717	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1715S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATGCCACTGCCAGGCTCAT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21242	0.001		0.0	False		,,,				2504	0.0					uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5149-5151)GCC>TCC		cardiac muscle ryanodine receptor							60.0	60.0	60.0					1																	237777577		2156	4262	6418	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777577G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5149G>T	1.37:g.237777577G>T	ENSP00000355533:p.Ala1717Ser						p.A1717S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5269	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1717			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5149G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053089	0.75960	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000013	T	0.70859	0.3272	L	0.49640	1.575	0.80722	D	1	P	0.44044	0.825	B	0.39660	0.306	T	0.69796	-0.5048	10	0.28530	T	0.3	.	19.2592	0.93961	0.0:0.0:1.0:0.0	.	1717	Q92736	RYR2_HUMAN	S	1717;1715;1701	ENSP00000355533:A1717S;ENSP00000353174:A1715S;ENSP00000443798:A1701S	ENSP00000353174:A1715S	A	+	1	0	RYR2	235844200	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.813000	0.99286	2.563000	0.86464	0.650000	0.86243	GCC		PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		41	39	41	39	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228401	21228401	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:21228401G>T	ENST00000233242.1	-	26	11466	c.11339C>A	c.(11338-11340)gCc>gAc	p.A3780D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3780					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.A3780D(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)					TAGGTTGAGGGCAAATGATGA	0.398																																						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.(11338-11340)GCC>GAC		apolipoprotein B precursor	Atorvastatin(DB01076)						113.0	117.0	115.0					2																	21228401		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.chr2:21228401G>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.11339C>A	2.37:g.21228401G>T	ENSP00000233242:p.Ala3780Asp						p.A3780D	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11467	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3780					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11339C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264763	0.23136	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00669	5.9	5.57	-1.39	0.08997	.	0.988253	0.08232	N	0.977480	T	0.00724	0.0024	L	0.31207	0.915	0.43683	D	0.996121	B	0.09022	0.002	B	0.09377	0.004	T	0.45833	-0.9234	10	0.38643	T	0.18	.	6.1701	0.20412	0.2252:0.0:0.2258:0.549	.	3780	P04114	APOB_HUMAN	D	3780	ENSP00000233242:A3780D	ENSP00000233242:A3780D	A	-	2	0	APOB	21081906	0.970000	0.33590	0.015000	0.15790	0.874000	0.50279	1.749000	0.38319	-0.001000	0.14495	0.655000	0.94253	GCC		PASS	0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			92	215	92	215	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27164897	27164897	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:27164897G>A	ENST00000288699.6	+	10	1327	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R390H	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	390					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R390H(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTATCCCCGCAAGGGCCGC	0.532											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1168-1170)CGC>CAC		dihydropyrimidinase-like 5							127.0	128.0	128.0					2																	27164897		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27164897G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1169G>A	2.37:g.27164897G>A	ENSP00000288699:p.Arg390His		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_uc002rhv.3_Missense_Mutation_p.R390H	p.R390H	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			10	1327	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		390					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1169G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396727	0.96009	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.91124	-2.79;-2.79	5.62	5.62	0.85841	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	M	0.86864	2.845	0.53688	D	0.999976	D	0.67145	0.996	P	0.55112	0.769	D	0.95014	0.8154	10	0.56958	D	0.05	-13.7671	18.4289	0.90618	0.0:0.0:1.0:0.0	.	390	Q9BPU6	DPYL5_HUMAN	H	390	ENSP00000288699:R390H;ENSP00000385549:R390H	ENSP00000288699:R390H	R	+	2	0	DPYSL5	27018401	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.659000	0.68010	2.667000	0.90743	0.561000	0.74099	CGC		PASS	0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	218	4	218	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32289075	32289075	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:32289075G>C	ENST00000315285.3	+	1	300	c.175G>C	c.(175-177)Gta>Cta	p.V59L	SPAST_ENST00000345662.1_Missense_Mutation_p.V59L	NM_014946.3	NP_055761.2			spastin									p.V59L(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)					CCCGCTGTTTGTAGGCTTCGC	0.692																																						uc002roc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(175-177)GTA>CTA		spastin isoform 1							43.0	41.0	42.0					2																	32289075		2203	4300	6503	SO:0001583	missense	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.chr2:32289075G>C	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.175G>C	2.37:g.32289075G>C	ENSP00000320885:p.Val59Leu					SPAST_uc002rod.2_Missense_Mutation_p.V59L	p.V59L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			1	396	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		59			Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.			Missense_Mutation	SNP	ENST00000315285.3	37	c.175G>C	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.342717	0.01277	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.92699	-3.09;-2.96	3.63	0.698	0.18087	.	0.505114	0.15970	N	0.235815	T	0.75781	0.3896	N	0.08118	0	0.28072	N	0.932545	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.63391	-0.6648	10	0.02654	T	1	-10.661	4.3568	0.11183	0.0909:0.1546:0.5947:0.1598	.	59;59	E5KRP6;Q9UBP0	.;SPAST_HUMAN	L	59	ENSP00000340817:V59L;ENSP00000320885:V59L	ENSP00000320885:V59L	V	+	1	0	SPAST	32142579	0.928000	0.31464	0.687000	0.30102	0.015000	0.08874	0.518000	0.22847	0.018000	0.15052	0.542000	0.68232	GTA		PASS	0.692	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		14	24	14	24	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33411958	33411958	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:33411958T>A	ENST00000404816.2	+	6	1590	c.1237T>A	c.(1237-1239)Tgc>Agc	p.C413S	LTBP1_ENST00000407925.1_Missense_Mutation_p.C87S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C87S|LTBP1_ENST00000418533.2_Missense_Mutation_p.C87S|LTBP1_ENST00000404525.1_Missense_Mutation_p.C87S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C87S|LTBP1_ENST00000354476.3_Missense_Mutation_p.C413S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	413	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.C413S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGGTGGCCAGTGCAGTTCAAG	0.438																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1237-1239)TGC>AGC		latent transforming growth factor beta binding							101.0	97.0	98.0					2																	33411958		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33411958T>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1237T>A	2.37:g.33411958T>A	ENSP00000386043:p.Cys413Ser					LTBP1_uc002rot.2_Missense_Mutation_p.C87S|LTBP1_uc002rou.2_Missense_Mutation_p.C87S|LTBP1_uc002rov.2_Missense_Mutation_p.C87S|LTBP1_uc010ymz.1_Missense_Mutation_p.C87S|LTBP1_uc010yna.1_Missense_Mutation_p.C87S	p.C413S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1237	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	413			EGF-like 2.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1237T>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499469	0.85069	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.3	5.3	0.74995	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99193	0.9720	M	0.68952	2.095	0.80722	D	1	P;P;D;P;P;D	0.65815	0.947;0.704;0.995;0.9;0.9;0.968	P;B;D;B;P;P	0.66847	0.563;0.227;0.947;0.407;0.487;0.747	D	0.99513	1.0956	9	0.87932	D	0	.	15.2561	0.73585	0.0:0.0:0.0:1.0	.	413;87;87;87;87;413	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	S	413;413;102;87;87;87;87;87	ENSP00000386043:C413S;ENSP00000346467:C413S;ENSP00000374653:C87S;ENSP00000393057:C87S;ENSP00000384373:C87S;ENSP00000385359:C87S;ENSP00000384091:C87S	ENSP00000346467:C413S	C	+	1	0	LTBP1	33265462	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	1.998000	0.58463	0.533000	0.62120	TGC		PASS	0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		7	73	7	73	---	---	---	---
CDKL4	344387	broad.mit.edu	37	2	39406320	39406321	+	Intron	DNP	GG	GG	TT	rs143704348	byFrequency	TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:39406320_39406321GG>TT	ENST00000395035.3	-	8	927				CDKL4_ENST00000378803.1_Missense_Mutation_p.P312K			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.?(3)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				ACTTTTGAGCGGAAGTACCTGT	0.386																																						uc002rrm.2																			3	Unknown(3)		lung(3)	ovary(1)	1						c.(934-936)CCG>CAG|c.(934-936)CCG>ACG		cyclin-dependent kinase-like 4																																				SO:0001627	intron_variant	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406320G>T|g.chr2:39406321G>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.928_928delinsTT	2.37:g.39406320_39406321delinsTT						CDKL4_uc010fal.1_Intron	p.P312Q|p.P312T	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			8	935|934	-		all_hematologic(82;0.248)	312					Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.935C>A|c.934C>A																																																																																					PASS	0.386	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		69|70	221|219	69	219	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49244674	49244674	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:49244674A>G	ENST00000406846.2	-	4	447	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	FSHR_ENST00000346173.3_Missense_Mutation_p.Y110H|FSHR_ENST00000304421.4_Missense_Mutation_p.Y110H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	110					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.Y110H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGGTTGATGTAGAGCAGGTTG	0.388									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(328-330)TAC>CAC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						151.0	142.0	145.0					2																	49244674		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49244674A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.328T>C	2.37:g.49244674A>G	ENSP00000384708:p.Tyr110His					FSHR_uc002rwx.2_Missense_Mutation_p.Y110H|FSHR_uc010fbn.2_Missense_Mutation_p.Y110H|FSHR_uc010fbo.1_RNA	p.Y110H	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	402	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	110			Extracellular (Potential).|LRR 3.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.328T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	6.592	0.477572	0.12521	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.17	3.01	0.34805	.	0.920211	0.09266	N	0.825869	T	0.35624	0.0938	L	0.28274	0.84	0.80722	D	1	B;B;B	0.16396	0.005;0.002;0.017	B;B;B	0.22753	0.011;0.008;0.041	T	0.14035	-1.0487	9	.	.	.	.	2.995	0.05995	0.6213:0.0:0.161:0.2177	.	110;110;110	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	H	110	ENSP00000384708:Y110H;ENSP00000333908:Y110H;ENSP00000306780:Y110H;ENSP00000415504:Y110H	.	Y	-	1	0	FSHR	49098178	0.935000	0.31712	0.978000	0.43139	0.982000	0.71751	0.552000	0.23376	0.123000	0.18342	-1.426000	0.01102	TAC		PASS	0.388	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			8	84	8	84	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71740979	71740979	+	Silent	SNP	C	C	T	rs564416027		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:71740979C>T	ENST00000258104.3	+	6	868	c.591C>T	c.(589-591)taC>taT	p.Y197Y	DYSF_ENST00000409762.1_Silent_p.Y228Y|DYSF_ENST00000413539.2_Silent_p.Y228Y|DYSF_ENST00000429174.2_Silent_p.Y197Y|DYSF_ENST00000409744.1_Silent_p.Y198Y|DYSF_ENST00000394120.2_Silent_p.Y198Y|DYSF_ENST00000409582.3_Silent_p.Y228Y|DYSF_ENST00000409651.1_Silent_p.Y229Y|DYSF_ENST00000410020.3_Silent_p.Y229Y|DYSF_ENST00000409366.1_Silent_p.Y198Y|DYSF_ENST00000410041.1_Silent_p.Y229Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	197					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.Y197Y(1)|p.Y229Y(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCCCCACTACCCCGGGATCA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16338	0.0		0.0	False		,,,				2504	0.0					uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7	GRCh37	CM090599	DYSF	M		c.(589-591)TAC>TAT		dysferlin isoform 8							58.0	60.0	60.0					2																	71740979		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71740979C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.591C>T	2.37:g.71740979C>T						DYSF_uc010feg.2_Silent_p.Y228Y|DYSF_uc010feh.2_Silent_p.Y197Y|DYSF_uc002sig.3_Silent_p.Y197Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.Y197Y|DYSF_uc010fef.2_Silent_p.Y228Y|DYSF_uc010fei.2_Silent_p.Y228Y|DYSF_uc010fek.2_Silent_p.Y229Y|DYSF_uc010fej.2_Silent_p.Y198Y|DYSF_uc010fel.2_Silent_p.Y198Y|DYSF_uc010feo.2_Silent_p.Y229Y|DYSF_uc010fem.2_Silent_p.Y198Y|DYSF_uc010fen.2_Silent_p.Y229Y|DYSF_uc002sif.2_Silent_p.Y198Y	p.Y197Y	NM_003494	NP_003485	O75923	DYSF_HUMAN			6	967	+			197			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.591C>T	CCDS1918.1																																																																																				PASS	0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	67	9	67	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136875	80136875	+	Missense_Mutation	SNP	C	C	A	rs568056658		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:80136875C>A	ENST00000402739.4	+	6	1013	c.1008C>A	c.(1006-1008)aaC>aaA	p.N336K	CTNNA2_ENST00000466387.1_Missense_Mutation_p.N336K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N370K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.N336K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N336K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.N336K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	336					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.N336K(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGAGTGCAACGCCGTGCGGC	0.597																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1006-1008)AAC>AAA		catenin, alpha 2 isoform 1							44.0	51.0	49.0					2																	80136875		2088	4225	6313	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136875C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1008C>A	2.37:g.80136875C>A	ENSP00000384638:p.Asn336Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.N336K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N336K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N336K	p.N336K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	1013	+			336					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1008C>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.207493	0.79240	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.6	-0.12	0.13539	.	0.135002	0.49305	D	0.000148	T	0.57681	0.2070	M	0.88704	2.975	0.58432	D	0.999994	D;D;D	0.63046	0.985;0.967;0.992	D;P;P	0.62955	0.909;0.793;0.852	T	0.61451	-0.7060	10	0.44086	T	0.13	.	11.263	0.49093	0.0:0.607:0.0:0.393	.	336;336;336	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	K	336;336;370;336;336;336	ENSP00000418191:N336K;ENSP00000419295:N336K;ENSP00000355398:N370K;ENSP00000384638:N336K;ENSP00000444675:N336K;ENSP00000441705:N336K	ENSP00000355398:N370K	N	+	3	2	CTNNA2	79990386	0.782000	0.28689	0.997000	0.53966	0.984000	0.73092	-0.038000	0.12144	0.049000	0.15920	-0.229000	0.12294	AAC		PASS	0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		34	74	34	74	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80816542	80816542	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:80816542C>A	ENST00000402739.4	+	14	2126	c.2121C>A	c.(2119-2121)agC>agA	p.S707R	CTNNA2_ENST00000466387.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S741R|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S386R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	707					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G708G(1)|p.S707R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGGACGACAGCGGCAATGATA	0.478																																						uc010ysh.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2119-2121)AGC>AGA		catenin, alpha 2 isoform 1							130.0	140.0	136.0					2																	80816542		2200	4300	6500	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816542C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2121C>A	2.37:g.80816542C>A	ENSP00000384638:p.Ser707Arg					CTNNA2_uc010yse.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysf.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysg.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysi.1_Missense_Mutation_p.S339R|CTNNA2_uc010ysj.1_Missense_Mutation_p.S36R	p.S707R	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2126	+			707					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2121C>A		.	.	.	.	.	.	.	.	.	.	C	14.73	2.621465	0.46736	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.97	-0.603	0.11630	.	0.090300	0.85682	D	0.000000	T	0.55481	0.1923	M	0.76574	2.34	0.48696	D	0.999697	B;P;B;B	0.46064	0.015;0.872;0.16;0.401	B;P;B;B	0.46510	0.029;0.519;0.201;0.385	T	0.60058	-0.7337	9	.	.	.	.	13.3528	0.60611	0.0:0.6126:0.0:0.3874	.	339;707;707;707	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	R	707;707;741;707;707;707;386	ENSP00000418191:S707R;ENSP00000419295:S707R;ENSP00000355398:S741R;ENSP00000384638:S707R;ENSP00000444675:S707R;ENSP00000441705:S707R;ENSP00000341500:S386R	.	S	+	3	2	CTNNA2	80670053	0.575000	0.26692	0.996000	0.52242	0.999000	0.98932	-0.197000	0.09518	-0.097000	0.12307	0.655000	0.94253	AGC		PASS	0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		39	95	39	95	---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85617334	85617334	+	Missense_Mutation	SNP	C	C	T	rs143405971		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:85617334C>T	ENST00000409890.2	+	13	1556	c.889C>T	c.(889-891)Cat>Tat	p.H297Y	ELMOD3_ENST00000315658.7_Missense_Mutation_p.H297Y|ELMOD3_ENST00000409344.3_Missense_Mutation_p.H297Y|ELMOD3_ENST00000409013.3_Missense_Mutation_p.H297Y|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.H297Y			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	297	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H297Y(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCACCTCGCACATGTCTGGAG	0.557																																						uc002spf.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(889-891)CAT>TAT		ELMO/CED-12 domain containing 3 isoform b		C	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS	4,4402	8.1+/-20.4	0,4,2199	120.0	92.0	101.0		889,889,889,889	4.1	0.0	2	dbSNP_134	101	0,8600		0,0,4300	yes	missense,missense,missense,missense	ELMOD3	NM_001135021.1,NM_001135022.1,NM_001135023.1,NM_032213.4	83,83,83,83	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	297/382,297/382,297/382,297/392	85617334	4,13002	2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85617334C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.889C>T	2.37:g.85617334C>T	ENSP00000386304:p.His297Tyr					ELMOD3_uc002spg.3_Missense_Mutation_p.H297Y|ELMOD3_uc002sph.3_Missense_Mutation_p.H297Y|ELMOD3_uc010ysn.1_Missense_Mutation_p.H297Y|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	p.H297Y	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			14	1554	+			297			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.889C>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	6.465	0.453951	0.12283	9.08E-4	0.0	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.97	4.08	0.47627	Engulfment/cell motility, ELMO (2);	0.176120	0.50627	D	0.000117	T	0.27629	0.0679	L	0.47716	1.5	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.10450	0.005;0.005	T	0.11690	-1.0577	10	0.62326	D	0.03	-10.3553	11.5974	0.50981	0.0:0.909:0.0:0.091	.	297;297	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	Y	297	ENSP00000387139:H297Y;ENSP00000386304:H297Y;ENSP00000386248:H297Y;ENSP00000377434:H297Y;ENSP00000318264:H297Y	ENSP00000318264:H297Y	H	+	1	0	ELMOD3	85470845	0.521000	0.26258	0.012000	0.15200	0.792000	0.44763	1.712000	0.37940	2.311000	0.77944	0.557000	0.71058	CAT		PASS	0.557	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		17	90	17	90	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832537	130832537	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:130832537G>C	ENST00000409914.2	-	17	2907	c.2508C>G	c.(2506-2508)atC>atG	p.I836M	POTEF_ENST00000357462.5_Missense_Mutation_p.I836M	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	836	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.I836M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCACAGCCTGGATGGCCACGT	0.582																																						uc010fmh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2506-2508)ATC>ATG		prostate, ovary, testis expressed protein on							107.0	129.0	122.0					2																	130832537		2197	4288	6485	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832537G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2508C>G	2.37:g.130832537G>C	ENSP00000386786:p.Ile836Met						p.I836M	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2908	-			836			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2508C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938298	0.34189	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.94457	-3.43;-3.43	.	.	.	.	.	.	.	.	D	0.96241	0.8774	M	0.86864	2.845	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.93091	0.6500	8	0.87932	D	0	.	2.6649	0.05041	0.4877:0.0:0.5123:0.0	.	836	A5A3E0	POTEF_HUMAN	M	836	ENSP00000350052:I836M;ENSP00000386786:I836M	ENSP00000350052:I836M	I	-	3	3	POTEF	130549007	1.000000	0.71417	0.215000	0.23724	0.218000	0.24690	2.155000	0.42301	0.119000	0.18210	0.121000	0.15741	ATC		PASS	0.582	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		51	378	51	378	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021756	132021756	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:132021756C>G	ENST00000356920.5	+	15	2822	c.2728C>G	c.(2728-2730)Cgt>Ggt	p.R910G	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R910G(1)									GGAAATCGTGCGTGACATCAA	0.602																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2728-2730)CGT>GGT		protein expressed in prostate, ovary, testis,																																				SO:0001583	missense	445582						ATP binding	g.chr2:132021756C>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2728C>G	2.37:g.132021756C>G	ENSP00000439189:p.Arg910Gly					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R510G|POTEE_uc002tsl.2_Missense_Mutation_p.R492G|POTEE_uc010fmy.1_Missense_Mutation_p.R374G	p.R910G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2780	+			910			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2728C>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.972166	0.53614	.	.	ENSG00000188219	ENST00000356920	T	0.08896	3.04	.	.	.	.	.	.	.	.	T	0.35856	0.0946	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.14172	-1.0482	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	910	Q6S8J3	POTEE_HUMAN	G	910	ENSP00000439189:R910G	ENSP00000439189:R910G	R	+	1	0	AC131180.1	131738226	1.000000	0.71417	0.184000	0.23157	0.185000	0.23345	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	CGT		PASS	0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		40	163	40	163	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141130622	141130623	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:141130622_141130623GG>TT	ENST00000389484.3	-	69	11693_11694	c.10722_10723CC>AA	c.(10720-10725)ggCCat>ggAAat	p.H3575N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3575	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.H3575N(2)|p.G3574G(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)		CAGTCTTCATGGCCATCACATT	0.361										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10723-10725)CAT>AAT|c.(10720-10722)GGC>GGA		low density lipoprotein-related protein 1B																																				SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130622G>T|g.chr2:141130623G>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.10722_10723delinsTT	2.37:g.141130622_141130623delinsTT	ENSP00000374135:p.His3575Asn	TSP Lung(27;0.18)					p.H3575N|p.G3574G	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)	69	11695|11694	-		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)	3575|3574			Extracellular (Potential).|LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation|Silent	SNP	ENST00000389484.3	37	c.10723C>A|c.10722C>A	CCDS2182.1																																																																																				PASS	0.361	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		76|74	235|232	74	232	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141242925	141242925	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:141242925C>T	ENST00000389484.3	-	59	10383	c.9412G>A	c.(9412-9414)Gat>Aat	p.D3138N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3138					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.D3138N(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)		GCTTGAGGATCTAAAGACAAG	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9412-9414)GAT>AAT		low density lipoprotein-related protein 1B							96.0	92.0	94.0					2																	141242925		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141242925C>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.9412G>A	2.37:g.141242925C>T	ENSP00000374135:p.Asp3138Asn	TSP Lung(27;0.18)					p.D3138N	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)	59	10384	-		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)	3138			Extracellular (Potential).|LDL-receptor class B 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9412G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677673	0.68042	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93133	-3.17	5.26	0.986	0.19784	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.064508	0.64402	N	0.000012	D	0.88618	0.6485	L	0.47716	1.5	0.43330	D	0.995363	B	0.13145	0.007	B	0.10450	0.005	T	0.80377	-0.1408	10	0.30854	T	0.27	.	10.5374	0.45013	0.0:0.552:0.3783:0.0697	.	3138	Q9NZR2	LRP1B_HUMAN	N	3138;3076	ENSP00000374135:D3138N	ENSP00000374135:D3138N	D	-	1	0	LRP1B	140959395	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.406000	0.44557	0.259000	0.21709	0.655000	0.94253	GAT		PASS	0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	137	13	137	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165383553	165383553	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:165383553C>T	ENST00000263915.3	-	4	1112	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	GRB14_ENST00000543549.1_Missense_Mutation_p.A105T	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	192	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.A192T(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCATATTTGGCATAATTTTTT	0.333																																						uc002ucl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(574-576)GCC>ACC		growth factor receptor-bound protein 14							102.0	104.0	103.0					2																	165383553		2201	4294	6495	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165383553C>T		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.574G>A	2.37:g.165383553C>T	ENSP00000263915:p.Ala192Thr					GRB14_uc010zcv.1_Missense_Mutation_p.A105T|GRB14_uc002ucm.2_RNA	p.A192T	NM_004490	NP_004481	Q14449	GRB14_HUMAN			4	1115	-			192			Ras-associating.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.574G>A	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584240	0.96578	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.74	5.74	0.90152	Ras-association (2);	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	M	0.82323	2.585	0.80722	D	1	P;D	0.58268	0.765;0.982	B;P	0.53809	0.287;0.735	D	0.86199	0.1617	10	0.62326	D	0.03	-9.0778	19.919	0.97077	0.0:1.0:0.0:0.0	.	105;192	B7Z7F9;Q14449	.;GRB14_HUMAN	T	192;105;147;134	ENSP00000263915:A192T;ENSP00000443699:A105T;ENSP00000416786:A147T;ENSP00000401702:A134T	ENSP00000263915:A192T	A	-	1	0	GRB14	165091799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.707000	0.92482	0.655000	0.94253	GCC		PASS	0.333	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			55	126	55	126	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166732682	166732682	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:166732682C>G	ENST00000243344.7	-	28	4003	c.3866G>C	c.(3865-3867)tGt>tCt	p.C1289S	TTC21B_ENST00000536175.1_Missense_Mutation_p.C227S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1289					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.C1289S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TACCTGGTGACATATGTCAAT	0.289																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3865-3867)TGT>TCT		tetratricopeptide repeat domain 21B							90.0	91.0	91.0					2																	166732682		2203	4298	6501	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166732682C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3866G>C	2.37:g.166732682C>G	ENSP00000243344:p.Cys1289Ser					TTC21B_uc002udj.1_RNA	p.C1289S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			28	3999	-			1289			TPR 19.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3866G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173565	0.78452	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.37411	1.2;1.2	5.13	5.13	0.70059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.107337	0.64402	D	0.000001	T	0.41673	0.1169	M	0.79475	2.455	0.80722	D	1	P	0.38048	0.616	B	0.31245	0.126	T	0.51244	-0.8730	10	0.54805	T	0.06	-19.647	18.9349	0.92582	0.0:1.0:0.0:0.0	.	1289	Q7Z4L5	TT21B_HUMAN	S	227;1289	ENSP00000438692:C227S;ENSP00000243344:C1289S	ENSP00000243344:C1289S	C	-	2	0	TTC21B	166440928	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.800000	0.75165	2.552000	0.86080	0.563000	0.77884	TGT		PASS	0.289	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		25	72	25	72	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848275	166848275	+	Missense_Mutation	SNP	G	G	T	rs149225252		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:166848275G>T	ENST00000303395.4	-	26	5509	c.5510C>A	c.(5509-5511)cCg>cAg	p.P1837Q	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1809Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1826Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P1837Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1837					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.P1837Q(1)|p.P1826Q(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)	ATTGAGAGGCGGTTCAAGCGC	0.448																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5476-5478)CCG>CAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	102.0	101.0					2																	166848275		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848275G>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.5510C>A	2.37:g.166848275G>T	ENSP00000303540:p.Pro1837Gln						p.P1826Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5495	-			1837					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5477C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654350	0.67472	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96774	-4.12;-4.12;-4.07;-4.04	5.6	4.72	0.59763	.	0.000000	0.64402	D	0.000006	D	0.97807	0.9280	M	0.80616	2.505	0.51767	D	0.999937	D	0.67145	0.996	D	0.68039	0.955	D	0.98383	1.0559	10	0.66056	D	0.02	.	14.8755	0.70491	0.0689:0.0:0.9311:0.0	.	1826	P35498-2	.	Q	1837;1837;1826;1809	ENSP00000407030:P1837Q;ENSP00000303540:P1837Q;ENSP00000364554:P1826Q;ENSP00000386312:P1809Q	ENSP00000303540:P1837Q	P	-	2	0	SCN1A	166556521	1.000000	0.71417	0.988000	0.46212	0.832000	0.47134	5.492000	0.66893	1.505000	0.48720	0.650000	0.86243	CCG		PASS	0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		69	159	69	159	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	169985205	169985205	+	Missense_Mutation	SNP	C	C	T	rs202210831		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:169985205C>T	ENST00000263816.3	-	79	14221	c.13936G>A	c.(13936-13938)Gca>Aca	p.A4646T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4646					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A4646T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAAGATTTGCGGTGTCTTTA	0.398																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13936-13938)GCA>ACA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						146.0	149.0	148.0					2																	169985205		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169985205C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13936G>A	2.37:g.169985205C>T	ENSP00000263816:p.Ala4646Thr						p.A4646T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	79	14149	-			4646			Cytoplasmic (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13936G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915722	0.92178	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92649	0.6131	10	0.51188	T	0.08	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	4646	P98164	LRP2_HUMAN	T	4646	ENSP00000263816:A4646T	ENSP00000263816:A4646T	A	-	1	0	LRP2	169693451	1.000000	0.71417	0.153000	0.22517	0.676000	0.39594	7.428000	0.80296	2.770000	0.95276	0.650000	0.86243	GCA		PASS	0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		83	261	83	261	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179546138	179546138	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:179546138G>T	ENST00000591111.1	-	135	32485	c.32261C>A	c.(32260-32262)cCc>cAc	p.P10754H	TTN_ENST00000342992.6_Missense_Mutation_p.P9827H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P11071H			Q8WZ42	TITIN_HUMAN	titin	11718	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.P9827H(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)			CTTAGGAATGGGCACTGGTAC	0.353																																						uc010zfg.1																			1	Substitution - Missense(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.(29479-29481)CCC>CAC		titin isoform N2-A							225.0	203.0	210.0					2																	179546138		1841	4088	5929	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546138G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32261C>A	2.37:g.179546138G>T	ENSP00000465570:p.Pro10754His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6488H|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.P9827H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		134	29704	-			10754					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.29480C>A		.	.	.	.	.	.	.	.	.	.	G	11.52	1.664037	0.29604	.	.	ENSG00000155657	ENST00000342992	T	0.77620	-1.11	5.62	0.225	0.15325	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.65375	0.2685	N	0.24115	0.695	0.31634	N	0.648693	P	0.34462	0.454	B	0.36959	0.237	T	0.64512	-0.6390	9	0.87932	D	0	.	10.1397	0.42728	0.3597:0.0:0.6403:0.0	.	10754	Q8WZ42	TITIN_HUMAN	H	9827	ENSP00000343764:P9827H	ENSP00000343764:P9827H	P	-	2	0	TTN	179254383	0.001000	0.12720	0.957000	0.39632	0.975000	0.68041	0.667000	0.25112	-0.172000	0.10779	-0.143000	0.13931	CCC		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	47	4	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179572473	179572473	+	Silent	SNP	C	C	T	rs2627035|rs2742338		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:179572473C>T	ENST00000591111.1	-	98	28094	c.27870G>A	c.(27868-27870)gtG>gtA	p.V9290V	TTN_ENST00000342992.6_Silent_p.V8363V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V9607V			Q8WZ42	TITIN_HUMAN	titin	13407	Ig-like 76.				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.V8363V(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)			AGCTGAGCTGCACGTATTCTC	0.463																																						uc010zfg.1																			1	Substitution - coding silent(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.(25087-25089)GTG>GTA		titin isoform N2-A							117.0	114.0	115.0					2																	179572473		1928	4131	6059	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572473C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27870G>A	2.37:g.179572473C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V5024V	p.V8363V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	25313	-			9290					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.25089G>A																																																																																					PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	124	21	124	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179596699	179596699	+	Splice_Site	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:179596699C>A	ENST00000591111.1	-	56	16177		c.e56-1		TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Splice_Site			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)	p.?(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)			TAAGGTGACTCTACAGTAAAA	0.443																																						uc010zfg.1																			1	Unknown(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.e55-1		titin isoform N2-A							74.0	74.0	74.0					2																	179596699		1931	4153	6084	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596699C>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.15953-1G>T	2.37:g.179596699C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E1052_splice	p.E4391_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13396	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.13172_splice		.	.	.	.	.	.	.	.	.	.	C	17.35	3.367582	0.61513	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179304944	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	26	162	26	162	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610753	179610753	+	Intron	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:179610753A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.C5458C			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)			CCTCTCCTACACAATTCACAG	0.408																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16372-16374)TGT>TGC		titin isoform novex-3							125.0	125.0	125.0					2																	179610753		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610753A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4105T>C	2.37:g.179610753A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.C5458C	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16598	-			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	Silent	SNP	ENST00000591111.1	37	c.16374T>C																																																																																					PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	323	43	323	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196673406	196673406	+	Splice_Site	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:196673406C>A	ENST00000312428.6	-	53	10183	c.10083G>T	c.(10081-10083)ttG>ttT	p.L3361F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3361					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.L3361F(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						TAAAACATACCAAACTATCAT	0.318																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(10081-10083)TTG>TTT		dynein, axonemal, heavy chain 7							127.0	119.0	122.0					2																	196673406		1838	4084	5922	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196673406C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10083+1G>T	2.37:g.196673406C>A							p.L3361F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			53	10184	-			3361					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10083G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851958	0.51270	.	.	ENSG00000118997	ENST00000312428	T	0.08720	3.06	5.65	5.65	0.86999	Dynein heavy chain (1);	0.334507	0.28718	N	0.014375	T	0.10121	0.0248	L	0.41492	1.28	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.22487	-1.0215	9	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	3361	Q8WXX0	DYH7_HUMAN	F	3361	ENSP00000311273:L3361F	.	L	-	3	2	DNAH7	196381651	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.789000	0.55454	2.655000	0.90218	0.563000	0.77884	TTG		PASS	0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Missense_Mutation	21	117	21	117	---	---	---	---
COQ10B	80219	broad.mit.edu	37	2	198338507	198338507	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:198338507A>G	ENST00000263960.2	+	5	714	c.576A>G	c.(574-576)ctA>ctG	p.L192L	COQ10B_ENST00000409010.1_Silent_p.L164L|COQ10B_ENST00000545340.1_Silent_p.L149L|COQ10B_ENST00000409398.1_Silent_p.L142L	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	192						mitochondrial inner membrane (GO:0005743)		p.L192L(1)		endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATCACTTCTACATTCCCAGC	0.318																																						uc002uuh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(574-576)CTA>CTG		coenzyme Q10 homolog B precursor							70.0	67.0	68.0					2																	198338507		2203	4300	6503	SO:0001819	synonymous_variant	80219					mitochondrial inner membrane		g.chr2:198338507A>G	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.576A>G	2.37:g.198338507A>G						COQ10B_uc010fsl.1_Silent_p.L164L	p.L192L	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	630	+			192					B7Z1Y4	Silent	SNP	ENST00000263960.2	37	c.576A>G	CCDS2319.1																																																																																				PASS	0.318	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		18	77	18	77	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207572048	207572048	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:207572048G>T	ENST00000452335.2	-	3	390	c.274C>A	c.(274-276)Ctt>Att	p.L92I	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	92						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L92I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCGTGAGAAGGCTCAGAGTG	0.522																																						uc002vbr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(274-276)CTT>ATT		dystrotelin							72.0	72.0	72.0					2																	207572048		2004	4163	6167	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207572048G>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.274C>A	2.37:g.207572048G>T	ENSP00000396593:p.Leu92Ile						p.L92I	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	3	391	-			92						Missense_Mutation	SNP	ENST00000452335.2	37	c.274C>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220088	0.58560	.	.	ENSG00000232125	ENST00000452335	T	0.64991	-0.13	4.46	4.46	0.54185	EF-hand domain, type 1 (1);	.	.	.	.	T	0.70002	0.3174	L	0.29908	0.895	0.37271	D	0.907413	D	0.89917	1.0	D	0.87578	0.998	T	0.75717	-0.3220	9	0.72032	D	0.01	-5.7242	16.5768	0.84704	0.0:0.0:1.0:0.0	.	92	A2CJ06	DYTN_HUMAN	I	92	ENSP00000396593:L92I	ENSP00000396593:L92I	L	-	1	0	DYTN	207280293	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	2.880000	0.48530	2.753000	0.94483	0.655000	0.94253	CTT		PASS	0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			3	26	3	26	---	---	---	---
SGPP2	130367	broad.mit.edu	37	2	223386573	223386573	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr2:223386573C>T	ENST00000321276.7	+	3	552	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	156					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.L156L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		GGAAAAGAGACTGATCGCTGA	0.512																																						uc010zlo.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(466-468)CTG>TTG		sphingosine-1-phosphate phosphotase 2							116.0	113.0	114.0					2																	223386573		2203	4300	6503	SO:0001819	synonymous_variant	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223386573C>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.466C>T	2.37:g.223386573C>T						SGPP2_uc010zlp.1_Silent_p.L28L	p.L156L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	3	466	+		Renal(207;0.0376)	156					A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	c.466C>T	CCDS2453.1																																																																																				PASS	0.512	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			20	104	20	104	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10452492	10452492	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:10452492C>T	ENST00000352432.4	-	2	276	c.207G>A	c.(205-207)ccG>ccA	p.P69P	ATP2B2_ENST00000383800.4_Silent_p.P69P|ATP2B2_ENST00000397077.1_Silent_p.P69P|ATP2B2_ENST00000360273.2_Silent_p.P69P|ATP2B2_ENST00000343816.4_Silent_p.P69P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	69					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.P69P(4)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGCGGTGCCCGGCAAACCTG	0.527																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(205-207)CCG>CCA		plasma membrane calcium ATPase 2 isoform 1							100.0	121.0	114.0					3																	10452492		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452492C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.207G>A	3.37:g.10452492C>T						ATP2B2_uc003bvv.2_Silent_p.P69P|ATP2B2_uc003bvw.2_Silent_p.P69P|ATP2B2_uc010hdp.2_Silent_p.P69P|ATP2B2_uc010hdo.2_5'UTR	p.P69P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			3	646	-			69			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.207G>A	CCDS33701.1																																																																																				PASS	0.527	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		41	310	41	310	---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17052614	17052614	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:17052614G>T	ENST00000418129.2	+	2	1863	c.1398G>T	c.(1396-1398)atG>atT	p.M466I	PLCL2_ENST00000432376.1_Missense_Mutation_p.M466I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M466I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	592	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.M466I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAGCAGAAATGTCTCAGAGGA	0.428																																						uc011awc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1750-1752)ATG>ATT		phospholipase C-like 2 isoform 1							71.0	70.0	70.0					3																	17052614		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052614G>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1398G>T	3.37:g.17052614G>T	ENSP00000409637:p.Met466Ile					PLCL2_uc011awd.1_Missense_Mutation_p.M466I	p.M584I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	1857	+			592					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1752G>T	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.300|4.300	0.054964|0.054964	0.08291|0.08291	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.51325	.|0.71;0.71;0.71	5.63|5.63	5.63|5.63	0.86233|0.86233	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42877|0.42877	0.1222|0.1222	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.17268	.|0.021	.|B	.|0.13407	.|0.009	T|T	0.15780|0.15780	-1.0425|-1.0425	4|9	.|0.36615	.|T	.|0.2	.|.	19.6959|19.6959	0.96026|0.96026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|592	.|Q9UPR0	.|PLCL2_HUMAN	F|I	210|466;593;466;466	.|ENSP00000409637:M466I;ENSP00000379979:M466I;ENSP00000412836:M466I	.|ENSP00000285094:M593I	C|M	+|+	2|3	0|0	PLCL2|PLCL2	17027618|17027618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.681000|0.681000	0.39784|0.39784	6.589000|6.589000	0.74080|0.74080	2.659000|2.659000	0.90383|0.90383	0.650000|0.650000	0.86243|0.86243	TGT|ATG		PASS	0.428	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			51	71	51	71	---	---	---	---
CCR5	1234	broad.mit.edu	37	3	46414954	46414954	+	Nonsense_Mutation	SNP	T	T	A	rs333|rs562091107	byFrequency	TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:46414954T>A	ENST00000292303.4	+	2	707	c.561T>A	c.(559-561)taT>taA	p.Y187*	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Nonsense_Mutation_p.Y187*|CCR5_ENST00000343801.4_Nonsense_Mutation_p.Y187*	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	187					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Y187*(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACAGTCAGTATCAATTCTGGA	0.448																																						uc003cpo.3																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(559-561)TAT>TAA		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						133.0	134.0	134.0					3																	46414954		2203	4264	6467	SO:0001587	stop_gained	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414954T>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.561T>A	3.37:g.46414954T>A	ENSP00000292303:p.Tyr187*					CCR5_uc010hjd.2_Nonsense_Mutation_p.Y187*	p.Y187*	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	683	+			187			Extracellular (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Nonsense_Mutation	SNP	ENST00000292303.4	37	c.561T>A	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056580	0.36277	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	.	.	.	5.2	1.49	0.22878	.	1.731630	0.03839	U	0.270282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3589	0.11192	0.1451:0.2375:0.0:0.6174	.	.	.	.	X	187;167;187;187	.	ENSP00000292303:Y187X	Y	+	3	2	CCR5	46389958	0.000000	0.05858	0.074000	0.20217	0.049000	0.14656	-0.106000	0.10890	0.018000	0.15052	0.459000	0.35465	TAT		PASS	0.448	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		185	309	185	309	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48629339	48629339	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:48629339C>A	ENST00000328333.8	-	10	1456	c.1349G>T	c.(1348-1350)cGt>cTt	p.R450L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R450L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	450	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R450L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGTCTCACGCCGCCATTC	0.637																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(1348-1350)CGT>CTT		alpha 1 type VII collagen precursor							63.0	72.0	69.0					3																	48629339		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629339C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1349G>T	3.37:g.48629339C>A	ENSP00000332371:p.Arg450Leu						p.R450L	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1350	-			450			Nonhelical region (NC1).|Fibronectin type-III 3.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1349G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501101	0.26861	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.56941	0.43;0.43	4.76	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.156131	0.29861	N	0.011007	T	0.33177	0.0854	N	0.20401	0.57	0.35539	D	0.802896	P	0.36027	0.533	B	0.32393	0.145	T	0.46233	-0.9206	10	0.62326	D	0.03	.	7.9498	0.30008	0.0:0.7512:0.1625:0.0863	.	450	Q02388	CO7A1_HUMAN	L	450	ENSP00000332371:R450L;ENSP00000412569:R450L	ENSP00000332371:R450L	R	-	2	0	COL7A1	48604343	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	1.247000	0.32815	1.072000	0.40860	0.462000	0.41574	CGT		PASS	0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		37	61	37	61	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97852251	97852252	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:97852251_97852252CC>AA	ENST00000354565.2	+	1	710_711	c.710_711CC>AA	c.(709-711)gCC>gAA	p.A237E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237D(1)|p.A237E(1)|p.A237A(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTAAGGAAAGCCTTTTCCACCT	0.406																																						uc011bgt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)	2						c.(709-711)GCC>GAC|c.(709-711)GCC>GCA		olfactory receptor, family 5, subfamily H,																																				SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852251C>A|g.chr3:97852252C>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	Exception_encountered	3.37:g.97852251_97852252delinsAA	ENSP00000346575:p.Ala237Glu						p.A237D|p.A237A	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	710|711	+			237			Cytoplasmic (Potential).			Missense_Mutation|Silent	SNP	ENST00000354565.2	37	c.710C>A|c.711C>A	CCDS33797.1																																																																																				PASS	0.406	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		30|31	193|196	30	193	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107492320	107492320	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:107492320A>G	ENST00000325805.8	+	11	2039	c.1752A>G	c.(1750-1752)ctA>ctG	p.L584L	BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Silent_p.L584L|BBX_ENST00000402543.1_Silent_p.L584L|BBX_ENST00000406780.1_Silent_p.L584L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	584					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L584L(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGATGCACTACCACCCAGCC	0.468																																						uc010hpr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1750-1752)CTA>CTG		HMG-BOX transcription factor BBX isoform 1							90.0	87.0	88.0					3																	107492320		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492320A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1752A>G	3.37:g.107492320A>G						BBX_uc003dwk.3_Silent_p.L584L|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.L605L|BBX_uc003dwm.3_Silent_p.L584L|BBX_uc003dwo.3_5'Flank	p.L584L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	2079	+			584					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.1752A>G	CCDS46881.1																																																																																				PASS	0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		11	119	11	119	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159661	130159661	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:130159661C>T	ENST00000432398.2	+	35	6973	c.6479C>T	c.(6478-6480)tCg>tTg	p.S2160L	COL6A5_ENST00000265379.6_Missense_Mutation_p.S2160L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2160	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S2160L(1)|p.S199L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTATACTCGGTCAGGCGT	0.323																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(6478-6480)TCG>TTG		collagen, type XXIX, alpha 1							48.0	44.0	45.0					3																	130159661		1817	4075	5892	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159661C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6479C>T	3.37:g.130159661C>T	ENSP00000390895:p.Ser2160Leu					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.S199L	p.S2160L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6973	+			2160			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6479C>T		.	.	.	.	.	.	.	.	.	.	C	4.461	0.085487	0.08583	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157	T;T;T	0.12672	2.66;2.66;2.66	5.87	4.99	0.66335	.	0.326853	0.22285	N	0.062067	T	0.09069	0.0224	L	0.46819	1.47	0.09310	N	1	P;B	0.34743	0.466;0.196	B;B	0.23018	0.032;0.043	T	0.28235	-1.0050	10	0.17369	T	0.5	.	5.8748	0.18822	0.1637:0.6894:0.0:0.147	.	2160;2160	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2160;2160;103	ENSP00000390895:S2160L;ENSP00000265379:S2160L;ENSP00000362250:S103L	ENSP00000265379:S2160L	S	+	2	0	COL6A5	131642351	0.000000	0.05858	0.239000	0.24122	0.160000	0.22226	0.839000	0.27586	1.470000	0.48102	0.655000	0.94253	TCG		PASS	0.323	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		16	30	16	30	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739004	138739004	+	Missense_Mutation	SNP	C	C	T	rs376706999		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:138739004C>T	ENST00000329447.5	-	1	764	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167								p.R167Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGTCCATCCGGAGCTCCGG	0.647																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(499-501)CGG>CAG		proline rich 23B		C	GLN/ARG	0,4402		0,0,2201	31.0	39.0	36.0		500	0.2	0.0	3		36	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRR23B	NM_001013650.2	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	167/266	138739004	1,12999	2201	4299	6500	SO:0001583	missense	389151							g.chr3:138739004C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.500G>A	3.37:g.138739004C>T	ENSP00000328768:p.Arg167Gln						p.R167Q	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	765	-			167					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.500G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931691	0.18131	0.0	1.16E-4	ENSG00000184814	ENST00000329447	.	.	.	3.14	0.243	0.15503	.	1.288490	0.05675	N	0.589327	T	0.24044	0.0582	L	0.44542	1.39	0.09310	N	1	P	0.43973	0.823	B	0.33196	0.159	T	0.20874	-1.0262	9	0.23302	T	0.38	.	5.4872	0.16757	0.0:0.6056:0.0:0.3944	.	167	Q6ZRT6	PR23B_HUMAN	Q	167	.	ENSP00000328768:R167Q	R	-	2	0	PRR23B	140221694	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.107000	0.10873	0.036000	0.15547	0.456000	0.33151	CGG		PASS	0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		14	112	14	112	---	---	---	---
PLS1	5357	broad.mit.edu	37	3	142388315	142388315	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:142388315G>C	ENST00000337777.3	+	3	367	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L	PLS1_ENST00000457734.2_Missense_Mutation_p.V52L|PLS1_ENST00000497002.1_Missense_Mutation_p.V52L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	52	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V52L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGGCTACAAGGTGCGCGAGAT	0.388																																						uc010huv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)GTG>CTG		plastin 1							164.0	166.0	166.0					3																	142388315		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142388315G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.154G>C	3.37:g.142388315G>C	ENSP00000336831:p.Val52Leu					PLS1_uc003euz.2_Missense_Mutation_p.V52L|PLS1_uc003eva.2_Missense_Mutation_p.V52L	p.V52L	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			3	313	+			52			EF-hand 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.154G>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997788	0.74818	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;1.56;-0.03;-0.58;-0.58;-0.16;-0.58	5.38	5.38	0.77491	EF-hand-like domain (1);	0.055015	0.64402	D	0.000001	T	0.60051	0.2239	N	0.25286	0.73	0.80722	D	1	B	0.32302	0.363	B	0.28232	0.087	T	0.61544	-0.7041	10	0.52906	T	0.07	-17.3167	19.4872	0.95033	0.0:0.0:1.0:0.0	.	52	Q14651	PLSI_HUMAN	L	52	ENSP00000387890:V52L;ENSP00000417311:V52L;ENSP00000419531:V52L;ENSP00000419271:V52L;ENSP00000418880:V52L;ENSP00000336831:V52L;ENSP00000417491:V52L;ENSP00000418700:V52L	ENSP00000336831:V52L	V	+	1	0	PLS1	143871005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.600000	0.74132	2.664000	0.90586	0.650000	0.86243	GTG		PASS	0.388	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		38	405	38	405	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905833	164905833	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:164905833G>T	ENST00000475390.1	-	2	3229	c.2786C>A	c.(2785-2787)gCc>gAc	p.A929D	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A929D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	929					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A929D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTTGAGCCTGGCATCCTGCTG	0.493										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2785-2787)GCC>GAC		slit and trk like 3 protein precursor							160.0	159.0	159.0					3																	164905833		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164905833G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2786C>A	3.37:g.164905833G>T	ENSP00000420091:p.Ala929Asp	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.A929D	p.A929D	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3230	-			929			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2786C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080529	0.76528	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.55413	0.52;0.52	5.65	5.65	0.86999	.	0.000000	0.34484	N	0.003925	T	0.63414	0.2509	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.66404	-0.5932	10	0.72032	D	0.01	-14.081	19.3274	0.94267	0.0:0.0:1.0:0.0	.	929	O94933	SLIK3_HUMAN	D	929	ENSP00000420091:A929D;ENSP00000241274:A929D	ENSP00000241274:A929D	A	-	2	0	SLITRK3	166388527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.661000	0.90470	0.655000	0.94253	GCC		PASS	0.493	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		157	321	157	321	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:178916936G>T	ENST00000263967.3	+	2	480	c.323G>T	c.(322-324)cGt>cTt	p.R108L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(322-324)CGT>CTT		phosphoinositide-3-kinase, catalytic, alpha							87.0	82.0	84.0					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>T	3.37:g.178916936G>T	ENSP00000263967:p.Arg108Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594124	0.86953	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74002	0.83;-0.8	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.64404	1.975	0.80722	D	1	D	0.56035	0.974	P	0.54460	0.753	T	0.80502	-0.1354	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	L	108	ENSP00000263967:R108L;ENSP00000417479:R108L	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		PASS	0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	246	40	246	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179478921	179478921	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:179478921C>T	ENST00000263966.3	+	17	2441	c.1970C>T	c.(1969-1971)tCa>tTa	p.S657L	USP13_ENST00000496897.1_Missense_Mutation_p.S592L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	657	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.|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.S657L(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)			GATGAGTCATCAGTGATGCAG	0.507																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1969-1971)TCA>TTA		ubiquitin thiolesterase 13							140.0	130.0	133.0					3																	179478921		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.chr3:179478921C>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.1970C>T	3.37:g.179478921C>T	ENSP00000263966:p.Ser657Leu						p.S657L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		17	2051	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		657			UBA 1.		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1970C>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451823	0.43531	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T	0.21191	2.02;2.02	4.81	4.81	0.61882	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.140703	0.49305	D	0.000147	T	0.08403	0.0209	N	0.02286	-0.61	0.38563	D	0.949768	B	0.28258	0.205	B	0.32928	0.155	T	0.23619	-1.0183	10	0.07175	T	0.84	-4.9931	11.7173	0.51661	0.0:0.9181:0.0:0.0819	.	657	Q92995	UBP13_HUMAN	L	657;592;294	ENSP00000263966:S657L;ENSP00000417146:S592L	ENSP00000263966:S657L	S	+	2	0	USP13	180961615	0.997000	0.39634	0.292000	0.24919	0.893000	0.52053	5.737000	0.68606	2.377000	0.81083	0.585000	0.79938	TCA		PASS	0.507	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			23	272	23	272	---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190366465	190366465	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:190366465C>T	ENST00000412504.2	+	11	1936	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.L562F|IL1RAP_ENST00000072516.3_Missense_Mutation_p.L562F|IL1RAP_ENST00000447382.1_Missense_Mutation_p.L562F			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	562					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.L562F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGAGCAGGGCCTCTCGTATTC	0.483																																						uc003fsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1684-1686)CTC>TTC		interleukin 1 receptor accessory protein isoform							43.0	48.0	46.0					3																	190366465		2203	4299	6502	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190366465C>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1684C>T	3.37:g.190366465C>T	ENSP00000412053:p.Leu562Phe					IL1RAP_uc010hzg.1_Missense_Mutation_p.L562F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.L562F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	p.L562F	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	12	1890	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		562			Cytoplasmic (Potential).		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1684C>T	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927996	0.34002	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.01464	4.86;4.86;4.86;4.86	6.03	4.23	0.50019	.	1.358540	0.04527	N	0.385707	T	0.01592	0.0051	N	0.08118	0	0.26506	N	0.974687	P	0.43169	0.8	B	0.38562	0.276	T	0.46679	-0.9174	10	0.66056	D	0.02	.	8.2607	0.31783	0.1574:0.7642:0.0:0.0784	.	562	Q9NPH3	IL1AP_HUMAN	F	562	ENSP00000072516:L562F;ENSP00000412053:L562F;ENSP00000401132:L562F;ENSP00000390541:L562F	ENSP00000072516:L562F	L	+	1	0	IL1RAP	191849159	0.997000	0.39634	1.000000	0.80357	0.221000	0.24807	1.636000	0.37144	1.545000	0.49373	-0.321000	0.08615	CTC		PASS	0.483	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			13	95	13	95	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195452920	195452920	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr3:195452920C>A	ENST00000447234.2	+	2	1572	c.1446C>A	c.(1444-1446)tcC>tcA	p.S482S	MUC20_ENST00000320736.6_Silent_p.S311S|MUC20_ENST00000436408.1_Silent_p.S482S|MUC20_ENST00000445522.2_Silent_p.S447S	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	482	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.S482S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGACCCTGTCCACAGCCGGCA	0.617																																						uc010hzo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)TCC>TCA		mucin 20 isoform L							43.0	41.0	42.0					3																	195452920		2175	4277	6452	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452920C>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1446C>A	3.37:g.195452920C>A						MUC20_uc010hzp.2_Silent_p.S276S|MUC20_uc011bte.1_RNA	p.S311S	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1059	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	482			Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.933C>A																																																																																					PASS	0.617	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		4	33	4	33	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	658691	658691	+	Silent	SNP	C	C	T	rs201063091		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:658691C>T	ENST00000496514.1	+	18	2172	c.2151C>T	c.(2149-2151)tgC>tgT	p.C717C	PDE6B_ENST00000429163.2_Silent_p.C438C|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.C717C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	717					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.C717C(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TGACAGCCTGCGACCTGTCTG	0.562													.|||	1	0.000199681	0.0	0.0	5008	,	,		16444	0.0		0.001	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	uc003gap.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2149-2151)TGC>TGT		phosphodiesterase 6B isoform 1							86.0	82.0	83.0					4																	658691		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:658691C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2151C>T	4.37:g.658691C>T						PDE6B_uc003gao.3_Silent_p.C717C|PDE6B_uc011buy.1_Silent_p.C438C|PDE6B_uc011buz.1_Silent_p.C149C	p.C717C	NM_000283	NP_000274	P35913	PDE6B_HUMAN			18	2204	+			717					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.2151C>T	CCDS33932.1																																																																																				PASS	0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		25	157	25	157	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36214041	36214041	+	Silent	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:36214041T>G	ENST00000303965.4	-	5	1599	c.1110A>C	c.(1108-1110)acA>acC	p.T370T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	370					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.T370T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAAGAGTTTGTTGCAGTAG	0.313																																						uc003gsq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1108-1110)ACA>ACC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							151.0	138.0	143.0					4																	36214041		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36214041T>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1110A>C	4.37:g.36214041T>G						ARAP2_uc003gsr.1_Silent_p.T370T	p.T370T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			5	1448	-			370					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1110A>C	CCDS3441.1																																																																																				PASS	0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		16	66	16	66	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40099026	40099026	+	Silent	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:40099026T>G	ENST00000261435.6	+	3	482	c.66T>G	c.(64-66)gtT>gtG	p.V22V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	22					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.V22V(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTAAGGAAGTTGTCGTATCCA	0.438																																						uc003guy.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(64-66)GTT>GTG		Nedd4 binding protein 2							139.0	132.0	134.0					4																	40099026		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40099026T>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.66T>G	4.37:g.40099026T>G						N4BP2_uc010ifq.2_5'UTR	p.V22V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			3	404	+			22					A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.66T>G	CCDS3457.1																																																																																				PASS	0.438	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		68	181	68	181	---	---	---	---
CHRNA9	55584	broad.mit.edu	37	4	40350899	40350899	+	Splice_Site	SNP	G	G	T	rs551359710		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:40350899G>T	ENST00000310169.2	+	4	505	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	122					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.K122N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TGACCTTCAGGGCTGATGATG	0.522																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(3)|central_nervous_system(1)	7						c.(364-366)AAG>AAT		cholinergic receptor, nicotinic, alpha 9	Nicotine(DB00184)						101.0	97.0	99.0					4																	40350899		2203	4300	6503	SO:0001630	splice_region_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40350899G>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.366-1G>T	4.37:g.40350899G>T							p.K122N	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			4	382	+			122			Extracellular (Potential).		Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.366G>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807861	0.02819	.	.	ENSG00000174343	ENST00000310169	T	0.79653	-1.29	5.01	1.78	0.24846	Neurotransmitter-gated ion-channel ligand-binding (3);	0.092644	0.64402	D	0.000001	T	0.45875	0.1364	N	0.00504	-1.425	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.31475	-0.9942	9	.	.	.	.	9.9851	0.41837	0.2814:0.0:0.7186:0.0	.	122	Q9UGM1	ACHA9_HUMAN	N	122	ENSP00000312663:K122N	.	K	+	3	2	CHRNA9	40045656	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.435000	0.34969	0.639000	0.30564	0.561000	0.74099	AAG		PASS	0.522	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		Missense_Mutation	45	178	45	178	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57843150	57843150	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:57843150T>A	ENST00000264230.4	-	1	1839	c.602A>T	c.(601-603)tAc>tTc	p.Y201F	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	201					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.Y201F(1)									CAGCTCCAGGTACTGCTCGCG	0.731																																						uc003hck.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(601-603)TAC>TTC		hypothetical protein LOC84273							12.0	15.0	14.0					4																	57843150		2131	4207	6338	SO:0001583	missense	84273						GTP binding	g.chr4:57843150T>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.602A>T	4.37:g.57843150T>A	ENSP00000264230:p.Tyr201Phe					POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.Y201F	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	677	-	Glioma(25;0.08)|all_neural(26;0.181)		201					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.602A>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055094	0.36277	.	.	ENSG00000084092	ENST00000264230	T	0.28255	1.62	5.26	2.74	0.32292	.	0.262833	0.39020	N	0.001492	T	0.12475	0.0303	N	0.16066	0.365	0.53005	D	0.999966	B	0.17465	0.022	B	0.12156	0.007	T	0.20806	-1.0264	10	0.05436	T	0.98	.	5.1797	0.15154	0.3985:0.0776:0.0:0.5239	.	201	Q8NC60	CD014_HUMAN	F	201	ENSP00000264230:Y201F	ENSP00000264230:Y201F	Y	-	2	0	C4orf14	57537907	1.000000	0.71417	0.998000	0.56505	0.347000	0.29111	3.595000	0.54016	0.282000	0.22254	-0.531000	0.04308	TAC		PASS	0.731	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		8	23	8	23	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68938144	68938144	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:68938144A>G	ENST00000356291.2	-	5	470	c.411T>C	c.(409-411)gaT>gaC	p.D137D	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	137	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D137D(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GTTCAGCACTATCAGTAGATG	0.318																																						uc003hdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(409-411)GAT>GAC		transmembrane protease, serine 11F							103.0	103.0	103.0					4																	68938144		2203	4299	6502	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938144A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.411T>C	4.37:g.68938144A>G						LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.D137D	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			5	460	-			137			SEA.|Extracellular (Potential).		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.411T>C	CCDS3520.1																																																																																				PASS	0.318	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		38	131	38	131	---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71650542	71650542	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:71650542G>T	ENST00000226328.4	+	10	1580	c.1017G>T	c.(1015-1017)ggG>ggT	p.G339G	RUFY3_ENST00000536664.1_Silent_p.G323G|RUFY3_ENST00000381006.3_Silent_p.G339G|RUFY3_ENST00000502653.1_Silent_p.G286G|RUFY3_ENST00000417478.2_Silent_p.G399G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	339					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.G339G(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTGCAGAAGGGCAAGCACTAA	0.323																																						uc003hfq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1015-1017)GGG>GGT		RUN and FYVE domain containing 3 isoform 2							66.0	61.0	63.0					4																	71650542		2203	4300	6503	SO:0001819	synonymous_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71650542G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1017G>T	4.37:g.71650542G>T						RUFY3_uc003hfp.3_Silent_p.G399G|RUFY3_uc011cax.1_Silent_p.G357G|RUFY3_uc003hfr.2_Silent_p.G339G|RUFY3_uc011cay.1_Silent_p.G275G	p.G339G	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		10	1612	+		all_hematologic(202;0.248)	339			Potential.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	ENST00000226328.4	37	c.1017G>T	CCDS3547.1																																																																																				PASS	0.323	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		6	22	6	22	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90830530	90830530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:90830530G>T	ENST00000394980.1	+	3	1046	c.727G>T	c.(727-729)Gga>Tga	p.G243*	MMRN1_ENST00000508372.1_5'UTR|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.G209*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.G243*			Q13201	MMRN1_HUMAN	multimerin 1	243	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				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.G243*(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)		CTGGACCGGTGGATCCTGTCC	0.423																																						uc003hst.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(727-729)GGA>TGA		multimerin 1							85.0	77.0	79.0					4																	90830530		2202	4299	6501	SO:0001587	stop_gained	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90830530G>T	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.727G>T	4.37:g.90830530G>T	ENSP00000378431:p.Gly243*					MMRN1_uc010iku.2_Nonsense_Mutation_p.G209*|MMRN1_uc011cds.1_5'UTR	p.G243*	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	798	+		Hepatocellular(203;0.114)	243			EMI.		Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	c.727G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	38	7.149453	0.98096	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	.	.	.	5.07	3.33	0.38152	.	0.185388	0.36628	N	0.002489	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.1294	0.42669	0.1594:0.0:0.8406:0.0	.	.	.	.	X	243;243;209	.	ENSP00000264790:G243X	G	+	1	0	MMRN1	91049553	0.995000	0.38212	0.112000	0.21494	0.700000	0.40528	2.987000	0.49378	1.451000	0.47736	0.563000	0.77884	GGA		PASS	0.423	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		19	81	19	81	---	---	---	---
SLC9B1	150159	broad.mit.edu	37	4	103866467	103866467	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:103866467T>A	ENST00000296422.7	-	6	677	c.536A>T	c.(535-537)cAt>cTt	p.H179L	SLC9B1_ENST00000394789.3_Missense_Mutation_p.H179L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	179					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.H179L(1)									GACCTTCAAATGCCTCAAAGC	0.368																																						uc003hww.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(535-537)CAT>CTT		Na+/H+ exchanger domain containing 1 isoform 1							110.0	110.0	110.0					4																	103866467		2203	4300	6503	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103866467T>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.536A>T	4.37:g.103866467T>A	ENSP00000296422:p.His179Leu					NHEDC1_uc003hwu.2_Missense_Mutation_p.H179L|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	p.H179L	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	6	658	-		Hepatocellular(203;0.217)	179					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.536A>T	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984572	0.35036	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.15256	2.44;2.44;2.44	4.16	2.96	0.34315	.	1.043810	0.07600	N	0.923467	T	0.20292	0.0488	L	0.38838	1.175	0.09310	N	1	B;B	0.33777	0.409;0.425	B;B	0.41271	0.281;0.352	T	0.38735	-0.9647	10	0.66056	D	0.02	-23.5688	9.3866	0.38347	0.0:0.087:0.0:0.913	.	179;179	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	L	179;179;122;179	ENSP00000378269:H179L;ENSP00000296422:H179L;ENSP00000426056:H122L	ENSP00000296422:H179L	H	-	2	0	SLC9B1	104085916	0.071000	0.21146	0.002000	0.10522	0.009000	0.06853	2.688000	0.46984	0.752000	0.32923	0.477000	0.44152	CAT		PASS	0.368	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		53	170	53	170	---	---	---	---
SGMS2	166929	broad.mit.edu	37	4	108816990	108816990	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:108816990C>G	ENST00000394684.4	+	3	838	c.281C>G	c.(280-282)aCc>aGc	p.T94S	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.T94S|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.T94S	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	94					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.T94S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		GTCTTGACAACCGTCATGATC	0.453																																						uc003hyl.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(280-282)ACC>AGC		sphingomyelin synthase 2	Choline(DB00122)						118.0	114.0	115.0					4																	108816990		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108816990C>G	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.281C>G	4.37:g.108816990C>G	ENSP00000378176:p.Thr94Ser					uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.T94S|SGMS2_uc003hyo.2_Missense_Mutation_p.T94S	p.T94S	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	836	+			94			Helical; (Potential).		A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.281C>G	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216640	0.58452	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.45668	0.89;0.89;0.89	5.67	4.82	0.62117	.	0.085072	0.85682	D	0.000000	T	0.38108	0.1028	N	0.25825	0.765	0.80722	D	1	D	0.56968	0.978	P	0.47981	0.563	T	0.11941	-1.0567	9	.	.	.	-13.0849	16.2064	0.82133	0.1343:0.8657:0.0:0.0	.	94	Q8NHU3	SMS2_HUMAN	S	94	ENSP00000378176:T94S;ENSP00000351981:T94S;ENSP00000378178:T94S	.	T	+	2	0	SGMS2	109036439	1.000000	0.71417	0.982000	0.44146	0.891000	0.51852	7.445000	0.80570	1.499000	0.48617	0.655000	0.94253	ACC		PASS	0.453	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		38	184	38	184	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119652646	119652646	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:119652646T>C	ENST00000280551.6	-	21	2931	c.2693A>G	c.(2692-2694)aAg>aGg	p.K898R	SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.K529R|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.K899R			O94855	SC24D_HUMAN	SEC24 family member D	898					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.K898R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CATTGTACTCTTGACATCTAA	0.468																																						uc003ici.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2692-2694)AAG>AGG		Sec24-related protein D							112.0	102.0	105.0					4																	119652646		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119652646T>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2693A>G	4.37:g.119652646T>C	ENSP00000280551:p.Lys898Arg					SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.K899R|SEC24D_uc003ick.2_Missense_Mutation_p.K60R	p.K898R	NM_014822	NP_055637	O94855	SC24D_HUMAN			21	2965	-			898					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.2693A>G	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304088	0.40795	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	T;T;T	0.30714	1.52;1.52;1.52	4.85	0.583	0.17417	.	0.359711	0.32703	N	0.005760	T	0.20088	0.0483	L	0.40543	1.245	0.19300	N	0.999971	B;B;B	0.24768	0.072;0.001;0.111	B;B;B	0.15870	0.012;0.006;0.014	T	0.14587	-1.0467	10	0.54805	T	0.06	-12.6799	6.4195	0.21736	0.0:0.0794:0.2991:0.6215	.	60;899;898	Q9NWP5;O94855-2;O94855	.;.;SC24D_HUMAN	R	898;899;529	ENSP00000280551:K898R;ENSP00000369059:K899R;ENSP00000425491:K529R	ENSP00000280551:K898R	K	-	2	0	SEC24D	119872094	0.678000	0.27586	0.900000	0.35374	0.987000	0.75469	0.986000	0.29590	0.269000	0.21961	0.477000	0.44152	AAG		PASS	0.468	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			34	145	34	145	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098242	177098242	+	Silent	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:177098242T>A	ENST00000280190.4	+	29	3756	c.3600T>A	c.(3598-3600)ccT>ccA	p.P1200P	WDR17_ENST00000393643.2_Silent_p.P1176P|WDR17_ENST00000508596.1_Silent_p.P1161P|WDR17_ENST00000507824.2_Silent_p.P1175P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1200								p.P1200P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGTCAGTACCTTTAAAAATTG	0.363																																						uc003iuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3598-3600)CCT>CCA		WD repeat domain 17 isoform 1							69.0	70.0	70.0					4																	177098242		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177098242T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3600T>A	4.37:g.177098242T>A						WDR17_uc003iuk.2_Silent_p.P1176P|WDR17_uc003ium.3_Silent_p.P1161P|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.P411P	p.P1200P	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	29	3756	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1200					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3600T>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	9.740	1.164647	0.21538	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.85	-4.13	0.03904	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-23.8527	1.386	0.02240	0.334:0.2989:0.0977:0.2693	.	.	.	.	I	435	.	.	F	+	1	0	WDR17	177335236	0.973000	0.33851	0.864000	0.33941	0.844000	0.47949	0.060000	0.14342	-0.938000	0.03714	0.524000	0.50904	TTT		PASS	0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			26	72	26	72	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177138061	177138061	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:177138061G>T	ENST00000296525.3	-	6	883	c.770C>A	c.(769-771)gCa>gAa	p.A257E	ASB5_ENST00000512254.1_Missense_Mutation_p.A204E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	257					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A257E(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATTGATATCTGCTCCAAATTC	0.408																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(769-771)GCA>GAA		ankyrin repeat and SOCS box-containing protein							201.0	189.0	193.0					4																	177138061		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138061G>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.770C>A	4.37:g.177138061G>T	ENSP00000296525:p.Ala257Glu					ASB5_uc003iup.1_Missense_Mutation_p.A204E	p.A257E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	786	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	257			ANK 6.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.770C>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125222	0.94429	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.80994	-0.01;-1.44	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.048013	0.85682	D	0.000000	D	0.93012	0.7776	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94409	0.7630	10	0.87932	D	0	-25.6897	19.6512	0.95812	0.0:0.0:1.0:0.0	.	257;204	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	E	257;204	ENSP00000296525:A257E;ENSP00000422877:A204E	ENSP00000296525:A257E	A	-	2	0	ASB5	177375055	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.016000	0.93645	2.712000	0.92718	0.591000	0.81541	GCA		PASS	0.408	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			73	240	73	240	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	187004704	187004704	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr4:187004704A>G	ENST00000296795.3	+	4	1968	c.1864A>G	c.(1864-1866)Ata>Gta	p.I622V	TLR3_ENST00000504367.1_Missense_Mutation_p.I345V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	622					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.I622V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAAGAATCTCATAACATCCGT	0.383																																						uc003iyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1864-1866)ATA>GTA		toll-like receptor 3 precursor							74.0	76.0	75.0					4																	187004704		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004704A>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1864A>G	4.37:g.187004704A>G	ENSP00000296795:p.Ile622Val					TLR3_uc011ckz.1_Missense_Mutation_p.I345V|TLR3_uc003iyr.2_Missense_Mutation_p.I345V	p.I622V	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1965	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	622			LRR 22.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.1864A>G	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511910	0.44660	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.64085	-0.08;-0.08	5.88	4.64	0.57946	.	0.079121	0.85682	D	0.000000	T	0.72162	0.3426	M	0.69823	2.125	0.53005	D	0.999964	P	0.38335	0.627	P	0.51266	0.664	T	0.75631	-0.3251	10	0.72032	D	0.01	.	12.8025	0.57594	0.8637:0.1363:0.0:0.0	.	622	O15455	TLR3_HUMAN	V	622;622;345	ENSP00000296795:I622V;ENSP00000423684:I345V	ENSP00000296795:I622V	I	+	1	0	TLR3	187241698	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	4.208000	0.58486	2.253000	0.74438	0.455000	0.32223	ATA		PASS	0.383	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			54	174	54	174	---	---	---	---
AHRR	57491	broad.mit.edu	37	5	427954	427954	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:427954G>T	ENST00000505113.1	+	8	797	c.753G>T	c.(751-753)ctG>ctT	p.L251L	AHRR_ENST00000316418.5_Silent_p.L269L|AHRR_ENST00000506456.1_Silent_p.L107L|AHRR_ENST00000512529.1_Silent_p.L97L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	251					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.L265L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TAAAATTCCTGTTTGGACAGA	0.562																																						uc003jav.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(805-807)CTG>CTT		arylhydrocarbon receptor repressor							34.0	37.0	36.0					5																	427954		1884	4103	5987	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427954G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.753G>T	5.37:g.427954G>T						AHRR_uc003jaw.2_Silent_p.L247L|AHRR_uc010isy.2_Silent_p.L97L|AHRR_uc010isz.2_Silent_p.L247L|AHRR_uc003jax.2_Silent_p.L10L|AHRR_uc003jay.2_Silent_p.L107L	p.L269L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	851	+			251					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.807G>T	CCDS56355.1																																																																																				PASS	0.562	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		30	73	30	73	---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1339043	1339043	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:1339043G>A	ENST00000320895.5	-	4	788	c.531C>T	c.(529-531)aaC>aaT	p.N177N	CLPTM1L_ENST00000507807.1_Silent_p.N44N|CLPTM1L_ENST00000320927.6_Silent_p.N177N	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	177					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.N177N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGCCATCACGTTCAGCGCCA	0.612																																						uc003jch.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(529-531)AAC>AAT		CLPTM1-like							61.0	58.0	59.0					5																	1339043		2203	4300	6503	SO:0001819	synonymous_variant	81037				apoptosis	integral to membrane		g.chr5:1339043G>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.531C>T	5.37:g.1339043G>A						CLPTM1L_uc003jcg.2_Silent_p.N44N	p.N177N	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	4	577	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		177			Extracellular (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	c.531C>T	CCDS3862.1																																																																																				PASS	0.612	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		23	37	23	37	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26890631	26890631	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:26890631A>G	ENST00000231021.4	-	8	1468	c.1296T>C	c.(1294-1296)ggT>ggC	p.G432G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	432	Cadherin 4. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G432G(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGAGTGAATACCAAAAATAC	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1294-1296)GGT>GGC		cadherin 9, type 2 preproprotein							101.0	101.0	101.0					5																	26890631		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890631A>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1296T>C	5.37:g.26890631A>G						CDH9_uc011cnv.1_Silent_p.G25G	p.G432G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			8	1465	-			432			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1296T>C	CCDS3893.1																																																																																				PASS	0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		19	256	19	256	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35727898	35727898	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:35727898G>T	ENST00000356031.3	+	21	3190	c.3036G>T	c.(3034-3036)tgG>tgT	p.W1012C	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.W1007C	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1012					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.W1012C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGAAGAATGGGTCTATGTGA	0.428																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3034-3036)TGG>TGT		KPL2 protein isoform 1							124.0	126.0	125.0					5																	35727898		1948	4136	6084	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35727898G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3036G>T	5.37:g.35727898G>T	ENSP00000348314:p.Trp1012Cys					SPEF2_uc003jjp.1_Missense_Mutation_p.W498C	p.W1012C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		21	3147	+	all_lung(31;7.56e-05)		1012					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3036G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561324	0.65538	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.09630	2.96;2.96	5.3	5.3	0.74995	.	0.077218	0.56097	D	0.000027	T	0.37404	0.1002	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.19484	-1.0304	10	0.87932	D	0	.	16.0464	0.80724	0.0:0.0:1.0:0.0	.	1007;1012	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1012;1007	ENSP00000348314:W1012C;ENSP00000412125:W1007C	ENSP00000348314:W1012C	W	+	3	0	SPEF2	35763655	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.566000	0.67372	2.641000	0.89580	0.650000	0.86243	TGG		PASS	0.428	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		33	226	33	226	---	---	---	---
ESM1	11082	broad.mit.edu	37	5	54281101	54281101	+	Missense_Mutation	SNP	C	C	G	rs139399038		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:54281101C>G	ENST00000381405.4	-	1	390	c.245G>C	c.(244-246)aGg>aCg	p.R82T	ESM1_ENST00000381403.4_Missense_Mutation_p.R82T|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	82	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)	p.R82T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGGCTGACACCTCAGCCCCGG	0.587																																						uc003jpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)AGG>ACG		endothelial cell-specific molecule 1 isoform a							89.0	89.0	89.0					5																	54281101		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281101C>G	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.245G>C	5.37:g.54281101C>G	ENSP00000370812:p.Arg82Thr					ESM1_uc010ivt.2_Missense_Mutation_p.R82T	p.R82T	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	314	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	82			IGFBP N-terminal.		B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.245G>C	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087326	0.36855	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	T;T	0.64085	-0.08;-0.08	5.56	3.42	0.39159	Insulin-like growth factor-binding protein, IGFBP (3);	0.269955	0.36409	N	0.002617	T	0.53818	0.1820	L	0.47716	1.5	0.28232	N	0.926083	P;P	0.43231	0.801;0.801	B;B	0.43225	0.412;0.412	T	0.48293	-0.9048	10	0.30854	T	0.27	-25.0779	8.9149	0.35576	0.0:0.7187:0.0:0.2813	.	82;82	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	T	82	ENSP00000370812:R82T;ENSP00000370810:R82T	ENSP00000370810:R82T	R	-	2	0	ESM1	54316858	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.922000	0.40045	1.307000	0.44944	0.563000	0.77884	AGG		PASS	0.587	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		262	648	262	648	---	---	---	---
GZMK	3003	broad.mit.edu	37	5	54320153	54320153	+	Start_Codon_SNP	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:54320153G>C	ENST00000231009.2	+	1	73	c.3G>C	c.(1-3)atG>atC	p.M1I	CTD-2313F11.1_ENST00000608929.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	1						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.M1I(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCTTTAAAATGACTAAGTTTT	0.318																																						uc003jpl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATC		granzyme K precursor							118.0	115.0	116.0					5																	54320153		2201	4299	6500	SO:0001582	initiator_codon_variant	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54320153G>C	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.3G>C	5.37:g.54320153G>C	ENSP00000231009:p.Met1Ile						p.M1I	NM_002104	NP_002095	P49863	GRAK_HUMAN			1	47	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	1					B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.3G>C	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659082	0.29515	.	.	ENSG00000113088	ENST00000231009	D	0.87650	-2.28	5.11	3.13	0.36017	.	0.161451	0.37857	N	0.001920	T	0.80502	0.4635	.	.	.	0.31759	N	0.63359	B	0.02656	0.0	B	0.06405	0.002	T	0.80027	-0.1554	9	0.59425	D	0.04	.	9.7843	0.40666	0.0:0.0:0.6093:0.3907	.	1	P49863	GRAK_HUMAN	I	1	ENSP00000231009:M1I	ENSP00000231009:M1I	M	+	3	0	GZMK	54355910	0.097000	0.21791	0.177000	0.23020	0.039000	0.13416	1.082000	0.30803	1.454000	0.47793	0.591000	0.81541	ATG		PASS	0.318	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	Missense_Mutation	150	329	150	329	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75858347	75858347	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:75858347G>T	ENST00000274364.6	+	3	570	c.273G>T	c.(271-273)aaG>aaT	p.K91N	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	91	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.K91N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGAGAAAAAGATCTATGATG	0.403																																						uc003kek.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(271-273)AAG>AAT		IQ motif containing GTPase activating protein 2							94.0	90.0	91.0					5																	75858347		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75858347G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.273G>T	5.37:g.75858347G>T	ENSP00000274364:p.Lys91Asn						p.K91N	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	3	495	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	91			CH.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.273G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666648	0.88251	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	D;D;D	0.95518	-3.73;-3.73;-3.73	5.85	5.85	0.93711	Calponin homology domain (5);	0.055522	0.64402	D	0.000001	D	0.97870	0.9300	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97925	1.0317	10	0.87932	D	0	-36.3022	20.5471	0.99284	0.0:0.0:1.0:0.0	.	91	Q13576	IQGA2_HUMAN	N	91;64;41	ENSP00000274364:K91N;ENSP00000423672:K64N;ENSP00000421097:K41N	ENSP00000274364:K91N	K	+	3	2	IQGAP2	75894103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.123000	0.50453	2.941000	0.99782	0.655000	0.94253	AAG		PASS	0.403	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		36	102	36	102	---	---	---	---
CTNNA1	1495	broad.mit.edu	37	5	138260946	138260946	+	Splice_Site	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:138260946C>T	ENST00000302763.7	+	13	1839	c.1749C>T	c.(1747-1749)gtC>gtT	p.V583V	CTNNA1_ENST00000355078.5_Splice_Site_p.V480V|CTNNA1_ENST00000518825.1_Splice_Site_p.V583V|CTNNA1_ENST00000540387.1_Splice_Site_p.V213V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	583					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.V583V(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTCCACAGTCATGCCACGTT	0.552																																						uc003ldh.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(1747-1749)GTC>GTT		catenin, alpha 1							71.0	64.0	66.0					5																	138260946		2203	4300	6503	SO:0001630	splice_region_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260946C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1748-1C>T	5.37:g.138260946C>T						CTNNA1_uc011cyx.1_Silent_p.V480V|CTNNA1_uc011cyy.1_Silent_p.V460V|CTNNA1_uc003ldi.2_Silent_p.V281V|CTNNA1_uc003ldj.2_Silent_p.V583V|CTNNA1_uc003ldl.2_Silent_p.V213V	p.V583V	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	1844	+			583					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.1749C>T	CCDS34243.1																																																																																				PASS	0.552	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	Silent	19	38	19	38	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147466029	147466029	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:147466029A>G	ENST00000256084.7	+	5	386	c.344A>G	c.(343-345)tAt>tGt	p.Y115C	SPINK5_ENST00000398454.1_Missense_Mutation_p.Y115C|SPINK5_ENST00000359874.3_Missense_Mutation_p.Y115C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	115	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y115C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATTATTATGAAGCTGTT	0.383																																						uc003lox.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(343-345)TAT>TGT		serine peptidase inhibitor, Kazal type 5 isoform							222.0	208.0	212.0					5																	147466029		1870	4113	5983	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147466029A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.344A>G	5.37:g.147466029A>G	ENSP00000256084:p.Tyr115Cys					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.Y87C|SPINK5_uc010jgr.2_Missense_Mutation_p.Y96C|SPINK5_uc003low.2_Missense_Mutation_p.Y115C|SPINK5_uc003loy.2_Missense_Mutation_p.Y115C	p.Y115C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	417	+			115			Kazal-like 2.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.344A>G	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	7.934	0.741399	0.15642	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.0	3.79	0.43588	Proteinase inhibitor I1, Kazal (2);Protease inhibitor, Kazal-type (1);	1.834210	0.03270	N	0.184650	D	0.89022	0.6597	M	0.91818	3.245	0.09310	N	1	B;P;P;B	0.50066	0.003;0.931;0.901;0.0	B;P;P;B	0.56343	0.008;0.694;0.796;0.005	T	0.63941	-0.6523	10	0.39692	T	0.17	-0.1825	8.9453	0.35756	0.738:0.262:0.0:0.0	.	96;115;115;115	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	115;115;96;115	ENSP00000381472:Y115C;ENSP00000352936:Y115C;ENSP00000421519:Y96C;ENSP00000256084:Y115C	ENSP00000256084:Y115C	Y	+	2	0	SPINK5	147446222	0.000000	0.05858	0.047000	0.18901	0.012000	0.07955	-0.043000	0.12043	0.769000	0.33313	0.455000	0.32223	TAT		PASS	0.383	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		71	152	71	152	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147481344	147481344	+	Splice_Site	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:147481344G>T	ENST00000256084.7	+	15	1345	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	SPINK5_ENST00000398454.1_Splice_Site_p.E435*|SPINK5_ENST00000359874.3_Splice_Site_p.E435*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	435	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E435*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTTCACAGGAGTTGTGTAG	0.423																																						uc003lox.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(1303-1305)GAG>TAG		serine peptidase inhibitor, Kazal type 5 isoform							88.0	83.0	85.0					5																	147481344		1874	4105	5979	SO:0001630	splice_region_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147481344G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1303-1G>T	5.37:g.147481344G>T						SPINK5_uc010jgs.1_Nonsense_Mutation_p.E407*|SPINK5_uc010jgr.2_Nonsense_Mutation_p.E416*|SPINK5_uc003low.2_Nonsense_Mutation_p.E435*|SPINK5_uc003loy.2_Nonsense_Mutation_p.E435*	p.E435*	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1376	+			435			Kazal-like 7.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	ENST00000256084.7	37	c.1303G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247726	0.59103	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	.	.	.	3.99	1.19	0.21007	.	0.600543	0.15243	N	0.272772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0428	5.5518	0.17095	0.3588:0.0:0.6412:0.0	.	.	.	.	X	435;435;416;435	.	.	E	+	1	0	SPINK5	147461537	0.964000	0.33143	0.094000	0.20943	0.045000	0.14185	1.286000	0.33273	0.235000	0.21160	0.650000	0.86243	GAG		PASS	0.423	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	Nonsense_Mutation	38	77	38	77	---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156899445	156899445	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:156899445G>A	ENST00000311946.7	+	6	994	c.878G>A	c.(877-879)tGc>tAc	p.C293Y	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.C274Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	293						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.C231Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATCATCATCTGCTCTGTGATC	0.552											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)TGC>TAC		ichthyin protein							202.0	203.0	203.0					5																	156899445		2116	4236	6352	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899445G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.878G>A	5.37:g.156899445G>A	ENSP00000311687:p.Cys293Tyr		OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.C274Y	p.C293Y	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	994	+			293			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.878G>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008101	0.93287	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.91407	-2.84;-2.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97404	0.9998	10	0.87932	D	0	-25.1119	20.5792	0.99380	0.0:0.0:1.0:0.0	.	274;293	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	Y	274;293	ENSP00000406456:C274Y;ENSP00000311687:C293Y	ENSP00000311687:C293Y	C	+	2	0	NIPAL4	156832023	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	TGC		PASS	0.552	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		69	193	69	193	---	---	---	---
FAM153B	202134	broad.mit.edu	37	5	175530260	175530261	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:175530260_175530261CC>AG	ENST00000253490.4	+	13	752_753	c.695_696CC>AG	c.(694-696)tCC>tAG	p.S232*	FAM153B_ENST00000510151.1_Nonsense_Mutation_p.S155*|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.S155*			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	232								p.S232Y(1)|p.S232S(1)|p.S232*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CAGGAGCTGTCCAGTTACAACG	0.47																																						uc003mdk.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(694-696)TCC>TAC|c.(694-696)TCC>TCG		hypothetical protein LOC202134																																				SO:0001587	stop_gained	202134							g.chr5:175530260C>A|g.chr5:175530261C>G	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	Exception_encountered	5.37:g.175530260_175530261delinsAG	ENSP00000253490:p.Ser232*						p.S232Y|p.S232S	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	13	752|753	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	232					A8MTI1	Missense_Mutation|Silent	SNP	ENST00000253490.4	37	c.695C>A|c.696C>G																																																																																					PASS	0.470	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		35	328|336	35	328	---	---	---	---
FAM153A	285596	broad.mit.edu	37	5	177161904	177161904	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:177161904G>T	ENST00000440605.3	-	12	747	c.464C>A	c.(463-465)tCc>tAc	p.S155Y	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.S155Y	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	155								p.S155Y(1)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	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)			GTTGTAACTGGACAGCTCCTG	0.463																																						uc010jkp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(463-465)TCC>TAC		hypothetical protein LOC285596							18.0	16.0	16.0					5																	177161904		2135	4254	6389	SO:0001583	missense	285596							g.chr5:177161904G>T	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.464C>A	5.37:g.177161904G>T	ENSP00000411506:p.Ser155Tyr					FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.S155Y	p.S155Y	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	885	-	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)	155					A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	c.464C>A	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281285	0.23392	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	T	0.31327	0.0793	N	0.14661	0.345	0.09310	N	0.999998	P	0.49696	0.927	P	0.55667	0.781	T	0.10823	-1.0613	8	0.62326	D	0.03	.	5.9868	0.19438	0.0:0.0:1.0:0.0	.	155	Q9UHL3	F153A_HUMAN	Y	232;155;155	.	ENSP00000353887:S155Y	S	-	2	0	FAM153A	177094510	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.103000	0.10940	1.016000	0.39470	0.585000	0.79938	TCC		PASS	0.463	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663		3	32	3	32	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6182228	6182228	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:6182228G>A	ENST00000264870.3	-	11	1717	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	484					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F484F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TACCTTCTTGGAATTTGTAAG	0.383																																						uc003mwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(1450-1452)TTC>TTT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						149.0	132.0	138.0					6																	6182228		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6182228G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1452C>T	6.37:g.6182228G>A						F13A1_uc011dib.1_Silent_p.F421F	p.F484F	NM_000129	NP_000120	P00488	F13A_HUMAN			11	1575	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	484					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.1452C>T	CCDS4496.1																																																																																				PASS	0.383	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		36	106	36	106	---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13305333	13305333	+	Nonstop_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:13305333T>C	ENST00000379300.3	-	8	1125	c.882A>G	c.(880-882)tgA>tgG	p.*294W	TBC1D7_ENST00000607532.1_5'Flank|TBC1D7_ENST00000356436.4_Nonstop_Mutation_p.*294W|TBC1D7_ENST00000343141.4_Nonstop_Mutation_p.*248W|TBC1D7_ENST00000379307.2_Nonstop_Mutation_p.*267W	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	0					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.*294W(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCGGGTGCGTTCAGCTTGAAT	0.532																																						uc003naj.2																			1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(880-882)TGA>TGG		TBC1 domain family, member 7 isoform a							164.0	123.0	137.0					6																	13305333		2203	4300	6503	SO:0001578	stop_lost	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13305333T>C	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.882A>G	6.37:g.13305333T>C	ENSP00000368602:p.*294Cysext*26					TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nal.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nam.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nao.2_Nonstop_Mutation_p.*267W|TBC1D7_uc010jpd.2_Nonstop_Mutation_p.*248W	p.*294W	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		8	973	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	294					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Nonstop_Mutation	SNP	ENST00000379300.3	37	c.882A>G	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.868256	0.51588	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3828	0.49768	0.0:0.0707:0.0:0.9293	.	.	.	.	W	235;294;294;267;248	.	.	X	-	3	0	TBC1D7	13413312	0.999000	0.42202	0.804000	0.32291	0.360000	0.29518	3.521000	0.53472	1.055000	0.40461	0.533000	0.62120	TGA		PASS	0.532	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		25	92	25	92	---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18212751	18212751	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:18212751G>T	ENST00000297792.5	+	14	1380	c.1203G>T	c.(1201-1203)caG>caT	p.Q401H	KDM1B_ENST00000388870.2_Missense_Mutation_p.Q634H|KDM1B_ENST00000397244.1_Missense_Mutation_p.Q402H|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	633					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.Q401H(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTTTACTACAGAAAGGTGCCA	0.413																																						uc003nco.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1288-1290)CAG>CAT		amine oxidase (flavin containing) domain 1							217.0	200.0	206.0					6																	18212751		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18212751G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1203G>T	6.37:g.18212751G>T	ENSP00000297792:p.Gln401His					KDM1B_uc003ncn.1_Missense_Mutation_p.Q401H|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR	p.Q430H	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			11	1365	+			633					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1290G>T	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626007|4.626007	0.87560|0.87560	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.92805|.	-3.11;-3.11;-3.11|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72763|0.72763	0.3501|0.3501	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.78314|.	0.979;0.991|.	T|T	0.74785|0.74785	-0.3547|-0.3547	10|5	0.87932|.	D|.	0|.	-15.7178|-15.7178	14.2176|14.2176	0.65805|0.65805	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	633;401|.	Q8NB78;A2A2C6|.	KDM1B_HUMAN;.|.	H|I	634;402;401;633|451	ENSP00000373522:Q634H;ENSP00000380419:Q402H;ENSP00000297792:Q401H|.	ENSP00000297792:Q401H|.	Q|R	+|+	3|2	2|0	KDM1B|KDM1B	18320730|18320730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.586000|4.586000	0.60984|0.60984	2.744000|2.744000	0.94065|0.94065	0.650000|0.650000	0.86243|0.86243	CAG|AGA		PASS	0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		31	311	31	311	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27420101	27420101	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:27420101T>C	ENST00000211936.6	-	6	1521	c.1237A>G	c.(1237-1239)Act>Gct	p.T413A	ZNF184_ENST00000377419.1_Missense_Mutation_p.T413A	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	413					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.T413A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCACCAGTATGAATCATA	0.403																																						uc003njj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)ACT>GCT		zinc finger protein 184							81.0	79.0	80.0					6																	27420101		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420101T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1237A>G	6.37:g.27420101T>C	ENSP00000211936:p.Thr413Ala					ZNF184_uc010jqv.2_Missense_Mutation_p.T413A|ZNF184_uc003nji.2_Missense_Mutation_p.T413A	p.T413A	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2048	-			413					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1237A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121388	0.77436	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26518	1.73;1.73	5.27	5.27	0.74061	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.21761	0.0524	M	0.68952	2.095	0.47374	D	0.9994	P	0.43788	0.817	B	0.43478	0.421	T	0.03863	-1.0997	10	0.66056	D	0.02	.	13.1686	0.59585	0.0:0.0:0.0:1.0	.	413	Q99676	ZN184_HUMAN	A	413	ENSP00000211936:T413A;ENSP00000366636:T413A	ENSP00000211936:T413A	T	-	1	0	ZNF184	27528080	0.926000	0.31397	0.954000	0.39281	0.997000	0.91878	3.222000	0.51223	2.214000	0.71695	0.533000	0.62120	ACT		PASS	0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		51	194	51	194	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39847149	39847149	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:39847149C>T	ENST00000398904.2	+	14	1923	c.1741C>T	c.(1741-1743)Ctc>Ttc	p.L581F	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.L581F|DAAM2_ENST00000538976.1_Missense_Mutation_p.L581F			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	581	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.L581F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGCCTGCCCCTCCCTCAGGA	0.662																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1741-1743)CTC>TTC		dishevelled associated activator of							42.0	44.0	43.0					6																	39847149		1915	4113	6028	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847149C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1741C>T	6.37:g.39847149C>T	ENSP00000381876:p.Leu581Phe					DAAM2_uc010jxc.2_Missense_Mutation_p.L581F|DAAM2_uc003oox.2_Missense_Mutation_p.L581F	p.L581F	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			14	1897	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		581			FH1.|Pro-rich.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1741C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125839	0.37533	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.80738	-1.4;-1.4;-1.41	5.15	4.27	0.50696	Actin-binding FH2 (1);	0.370235	0.23801	N	0.044435	T	0.38506	0.1043	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33471	-0.9867	10	0.10111	T	0.7	.	8.3055	0.32041	0.0:0.7572:0.1585:0.0842	.	581;581	G5EA45;Q86T65	.;DAAM2_HUMAN	F	581	ENSP00000274867:L581F;ENSP00000381876:L581F;ENSP00000437808:L581F	ENSP00000274867:L581F	L	+	1	0	DAAM2	39955127	0.001000	0.12720	0.837000	0.33122	0.792000	0.44763	1.322000	0.33689	1.124000	0.41980	0.650000	0.86243	CTC		PASS	0.662	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			19	65	19	65	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99284000	99284000	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:99284000G>T	ENST00000328345.5	+	1	1421	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	417					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G417G(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CTCCCGGAGGGACTCTGCCGG	0.617																																						uc003ppe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1249-1251)GGG>GGT		POU domain, class 3, transcription factor 2							38.0	49.0	45.0					6																	99284000		2192	4291	6483	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99284000G>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1251G>T	6.37:g.99284000G>T							p.G417G	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1421	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	417					Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.1251G>T	CCDS5040.1																																																																																				PASS	0.617	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			26	80	26	80	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105606478	105606478	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:105606478T>A	ENST00000254765.3	-	4	1021	c.743A>T	c.(742-744)gAc>gTc	p.D248V	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	248					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.D248V(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATATACCCTGTCATTCAAGGC	0.398																																						uc003prb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(742-744)GAC>GTC		popeye protein 3							162.0	161.0	161.0					6																	105606478		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606478T>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.743A>T	6.37:g.105606478T>A	ENSP00000254765:p.Asp248Val					uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	p.D248V	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			4	1145	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	248					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.743A>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201027	0.79015	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.37411	1.2;1.2	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.62685	-0.6802	10	0.72032	D	0.01	-2.1234	16.4719	0.84113	0.0:0.0:0.0:1.0	.	248	Q9HBV1	POPD3_HUMAN	V	248;94	ENSP00000254765:D248V;ENSP00000414409:D94V	ENSP00000254765:D248V	D	-	2	0	POPDC3	105713171	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.880000	0.69698	2.292000	0.77174	0.482000	0.46254	GAC		PASS	0.398	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		57	219	57	219	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108501625	108501625	+	Splice_Site	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:108501625T>A	ENST00000368986.4	+	6	1447		c.e6+2		NR2E1_ENST00000368983.3_Splice_Site	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1						aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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 hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CTGTATCTGGTAAGAATTGCA	0.358																																						uc003psg.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.e6+2		nuclear receptor subfamily 2, group E, member 1							117.0	109.0	112.0					6																	108501625		2203	4300	6503	SO:0001630	splice_region_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108501625T>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.739+2T>A	6.37:g.108501625T>A							p.G247_splice	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	6	1494	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)						Q6ZMP8	Splice_Site	SNP	ENST00000368986.4	37	c.739_splice	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641201	0.67244	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4361	0.83875	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NR2E1	108608318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.274000	0.75844	0.533000	0.62120	.		PASS	0.358	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		Intron	32	154	32	154	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121577239	121577239	+	Silent	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:121577239T>C	ENST00000398212.2	-	16	1975	c.1926A>G	c.(1924-1926)gcA>gcG	p.A642A	TBC1D32_ENST00000275159.6_Silent_p.A642A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	642					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.A642A(1)									CCTTTTTCCATGCCTTTGCTA	0.313																																						uc003pyo.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1924-1926)GCA>GCG		hypothetical protein LOC221322							85.0	77.0	80.0					6																	121577239		1814	4081	5895	SO:0001819	synonymous_variant	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121577239T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1926A>G	6.37:g.121577239T>C						C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.A161A	p.A642A	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	16	1994	-			642					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.1926A>G	CCDS43501.1																																																																																				PASS	0.313	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		27	96	27	96	---	---	---	---
HSF2	3298	broad.mit.edu	37	6	122737378	122737378	+	Silent	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:122737378C>G	ENST00000368455.4	+	5	660	c.468C>G	c.(466-468)tcC>tcG	p.S156S	HSF2_ENST00000452194.1_Silent_p.S156S	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	156	Hydrophobic repeat HR-A/B.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S156S(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AGAATGAGTCCCTTTGGAAGG	0.338																																						uc003pyu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)TCC>TCG		heat shock transcription factor 2 isoform a							120.0	109.0	113.0					6																	122737378		2203	4300	6503	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122737378C>G	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.468C>G	6.37:g.122737378C>G						HSF2_uc003pyt.3_Silent_p.S156S|HSF2_uc003pyv.2_Silent_p.S156S	p.S156S	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	5	655	+			156			Hydrophobic repeat HR-A/B.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.468C>G	CCDS5124.1																																																																																				PASS	0.338	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		20	64	20	64	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131971206	131971206	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:131971206G>T	ENST00000414305.1	+	4	522	c.194G>T	c.(193-195)gGa>gTa	p.G65V	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000543135.1_Missense_Mutation_p.G31V|ENPP3_ENST00000358229.5_Missense_Mutation_p.G65V|ENPP3_ENST00000427148.2_Missense_Mutation_p.G31V|ENPP3_ENST00000357639.3_Missense_Mutation_p.G65V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	65	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G65V(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCATTTAGAGGACTGGAGAAC	0.443																																						uc003qcu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(193-195)GGA>GTA		ectonucleotide pyrophosphatase/phosphodiesterase							189.0	178.0	182.0					6																	131971206		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131971206G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.194G>T	6.37:g.131971206G>T	ENSP00000406261:p.Gly65Val					ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.G31V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.G65V	p.G65V	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	4	541	+	Breast(56;0.0753)		65			Extracellular (Potential).|SMB 1.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.194G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642823	0.29246	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.71	4.83	0.62350	Somatomedin B domain (3);	0.266059	0.32372	N	0.006190	T	0.36853	0.0982	M	0.83774	2.66	0.53688	D	0.999971	B	0.34061	0.436	B	0.36766	0.232	T	0.46428	-0.9192	10	0.72032	D	0.01	-13.4844	12.9937	0.58634	0.0:0.3108:0.6892:0.0	.	65	O14638	ENPP3_HUMAN	V	65;65;31;31;65	ENSP00000406261:G65V;ENSP00000350265:G65V;ENSP00000440810:G31V;ENSP00000399269:G31V;ENSP00000350964:G65V	ENSP00000350265:G65V	G	+	2	0	ENPP3	132012899	0.975000	0.34042	0.990000	0.47175	0.076000	0.17211	1.885000	0.39678	1.371000	0.46172	0.563000	0.77884	GGA		PASS	0.443	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			56	199	56	199	---	---	---	---
STX7	8417	broad.mit.edu	37	6	132785134	132785134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:132785134G>A	ENST00000367941.2	-	9	804	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	STX7_ENST00000367937.4_Nonsense_Mutation_p.Q231*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	231					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.Q231*(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TAAATTACCTGATAATCTGCT	0.388																																						uc003qdg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(691-693)CAG>TAG		syntaxin 7							155.0	136.0	142.0					6																	132785134		2203	4300	6503	SO:0001587	stop_gained	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132785134G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.691C>T	6.37:g.132785134G>A	ENSP00000356918:p.Gln231*					STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Nonsense_Mutation_p.Q56*	p.Q231*	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	9	941	-	Breast(56;0.0615)		231			Cytoplasmic (Potential).		E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	37	c.691C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161854	0.97338	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.109	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	X	231;231;186;231	.	ENSP00000309600:Q186X	Q	-	1	0	STX7	132826827	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.119000	0.94362	2.820000	0.97059	0.650000	0.86243	CAG		PASS	0.388	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			61	220	61	220	---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136682314	136682314	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:136682314T>G	ENST00000354570.3	-	12	1940	c.1530A>C	c.(1528-1530)caA>caC	p.Q510H	MAP7_ENST00000454590.1_Missense_Mutation_p.Q532H|MAP7_ENST00000432797.2_Missense_Mutation_p.Q364H|MAP7_ENST00000544465.1_Missense_Mutation_p.Q495H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q495H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	510					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.Q510H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCTCTCTTTTGTCTGGAAA	0.547																																						uc003qgz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1528-1530)CAA>CAC		microtubule-associated protein 7							26.0	30.0	29.0					6																	136682314		2186	4285	6471	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136682314T>G	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1530A>C	6.37:g.136682314T>G	ENSP00000346581:p.Gln510His					MAP7_uc011edf.1_Missense_Mutation_p.Q495H|MAP7_uc011edg.1_Missense_Mutation_p.Q540H|MAP7_uc010kgu.2_Missense_Mutation_p.Q532H|MAP7_uc011edh.1_Missense_Mutation_p.Q495H|MAP7_uc010kgv.2_Missense_Mutation_p.Q532H|MAP7_uc010kgs.2_Missense_Mutation_p.Q364H|MAP7_uc011edi.1_Missense_Mutation_p.Q364H|MAP7_uc010kgq.1_Missense_Mutation_p.Q416H|MAP7_uc003qha.1_Missense_Mutation_p.Q473H	p.Q510H	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	12	1776	-	Colorectal(23;0.24)		510			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1530A>C	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356409	0.41700	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	5.78	0.133	0.14766	.	0.159549	0.30227	N	0.010115	T	0.02970	0.0088	M	0.76328	2.33	0.34284	D	0.682464	B;B;B;B;B;B;B	0.18461	0.028;0.028;0.023;0.028;0.023;0.023;0.028	B;B;B;B;B;B;B	0.19666	0.026;0.026;0.015;0.026;0.015;0.015;0.026	T	0.14755	-1.0461	10	0.45353	T	0.12	-9.4678	6.5242	0.22293	0.0:0.287:0.1236:0.5894	.	495;532;495;532;416;473;510	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	H	510;532;495;495;364;416	ENSP00000346581:Q510H;ENSP00000414712:Q532H;ENSP00000445737:Q495H;ENSP00000400790:Q495H;ENSP00000414879:Q364H	ENSP00000344217:Q416H	Q	-	3	2	MAP7	136724007	0.995000	0.38212	1.000000	0.80357	0.747000	0.42532	0.114000	0.15520	0.107000	0.17824	-0.451000	0.05528	CAA		PASS	0.547	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		17	57	17	57	---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142400042	142400042	+	Splice_Site	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:142400042T>C	ENST00000258042.1	-	2	563		c.e2-2		NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor						G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GCTCTGTACCTGGGAAAATGA	0.453																																						uc003qiu.2																			1	Unknown(1)		lung(1)	central_nervous_system(3)|breast(1)	4						c.e2-1		neuromedin B receptor							37.0	33.0	34.0					6																	142400042		2203	4300	6503	SO:0001630	splice_region_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142400042T>C		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.423-2A>G	6.37:g.142400042T>C							p.R141_splice	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	564	-	Breast(32;0.155)							E9KL38|Q5VUK8	Splice_Site	SNP	ENST00000258042.1	37	c.423_splice	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276093	0.80580	.	.	ENSG00000135577	ENST00000258042	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7474	0.77955	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NMBR	142441735	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.632000	0.83247	2.137000	0.66172	0.477000	0.44152	.		PASS	0.453	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		Intron	8	92	8	92	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160662610	160662610	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr6:160662610C>G	ENST00000366953.3	-	9	1655	c.1397G>C	c.(1396-1398)gGc>gCc	p.G466A	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	466					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.G466A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GATGTGGACGCCAAGATTCCT	0.453																																						uc003qtf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1396-1398)GGC>GCC		solute carrier family 22 member 2							124.0	96.0	106.0					6																	160662610		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160662610C>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1397G>C	6.37:g.160662610C>G	ENSP00000355920:p.Gly466Ala					SLC22A2_uc003qte.1_Missense_Mutation_p.G466A	p.G466A	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	9	1567	-		Breast(66;0.000776)|Ovarian(120;0.0303)	466			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1397G>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760504	0.49468	.	.	ENSG00000112499	ENST00000366953	T	0.72282	-0.64	4.57	3.69	0.42338	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.182972	0.47093	N	0.000246	T	0.60805	0.2297	M	0.69248	2.105	0.80722	D	1	P	0.36733	0.567	B	0.40825	0.341	T	0.63594	-0.6602	10	0.34782	T	0.22	.	15.2235	0.73333	0.0:0.8592:0.1408:0.0	.	466	O15244	S22A2_HUMAN	A	466	ENSP00000355920:G466A	ENSP00000355920:G466A	G	-	2	0	SLC22A2	160582600	0.987000	0.35691	0.033000	0.17914	0.726000	0.41606	3.054000	0.49908	1.249000	0.43950	0.650000	0.86243	GGC		PASS	0.453	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		32	92	32	92	---	---	---	---
CCZ1	51622	broad.mit.edu	37	7	5965287	5965287	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:5965287C>T	ENST00000325974.6	+	15	1484	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	RSPH10B_ENST00000535104.1_5'Flank|CCZ1_ENST00000537980.1_Missense_Mutation_p.T330M|RSPH10B_ENST00000539903.1_3'UTR|CCZ1_ENST00000496860.1_3'UTR	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	473						lysosome (GO:0005764)|membrane (GO:0016020)		p.T473M(1)		large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CTTTGTGCAACGCAGTTCAAC	0.403																																						uc003spf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)ACG>ATG		hypothetical protein LOC51622							72.0	63.0	66.0					7																	5965287		2201	4279	6480	SO:0001583	missense	51622					lysosomal membrane		g.chr7:5965287C>T	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1418C>T	7.37:g.5965287C>T	ENSP00000325681:p.Thr473Met						p.T473M	NM_015622	NP_056437	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	15	1508	+		Ovarian(82;0.0694)	473					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	c.1418C>T	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939249	0.73557	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.62	4.62	0.57501	.	0.052139	0.85682	N	0.000000	T	0.73410	0.3583	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.73553	-0.3946	9	0.42905	T	0.14	-11.8523	17.0114	0.86407	0.0:1.0:0.0:0.0	.	473	P86790	CCZ1L_HUMAN	M	473;330	.	ENSP00000325681:T473M	T	+	2	0	CCZ1	5931813	1.000000	0.71417	0.536000	0.28039	0.786000	0.44442	7.424000	0.80242	2.330000	0.79161	0.551000	0.68910	ACG		PASS	0.403	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1	NM_015622		39	247	39	247	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6474584	6474584	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:6474584C>A	ENST00000297056.6	-	4	656	c.487G>T	c.(487-489)Gct>Tct	p.A163S	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.A122S|DAGLB_ENST00000428902.2_Missense_Mutation_p.A36S|DAGLB_ENST00000479922.2_5'Flank	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	163					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A163S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GAATATGGAGCCATTTTCCCC	0.512																																						uc003sqa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(487-489)GCT>TCT		diacylglycerol lipase, beta isoform 1							90.0	90.0	90.0					7																	6474584		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474584C>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.487G>T	7.37:g.6474584C>A	ENSP00000297056:p.Ala163Ser					DAGLB_uc011jwt.1_5'UTR|DAGLB_uc011jwu.1_Intron|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.A122S|DAGLB_uc011jww.1_Intron	p.A163S	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	657	-		Ovarian(82;0.232)	163			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.487G>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	C	9.847	1.192538	0.21954	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.43688	0.94;0.95	5.26	1.9	0.25705	.	0.610100	0.17507	N	0.171777	T	0.17534	0.0421	N	0.12471	0.22	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08554	-1.0716	10	0.19590	T	0.45	.	1.0563	0.01591	0.2851:0.2422:0.3191:0.1536	.	163	Q8NCG7	DGLB_HUMAN	S	163;122;163;36	ENSP00000297056:A163S;ENSP00000404785:A122S	ENSP00000297056:A163S	A	-	1	0	DAGLB	6441109	0.184000	0.23200	0.243000	0.24186	0.977000	0.68977	-0.063000	0.11655	1.178000	0.42870	-0.282000	0.10007	GCT		PASS	0.512	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		58	129	58	129	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18067168	18067168	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:18067168C>A	ENST00000506618.2	-	1	318	c.238G>T	c.(238-240)Gct>Tct	p.A80S		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	80					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.A80S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CTAGCTGAAGCAATCTTGCAG	0.493																																						uc003stz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(238-240)GCT>TCT		phosphoribosyl pyrophosphate synthetase 1-like							295.0	288.0	290.0					7																	18067168		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067168C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.238G>T	7.37:g.18067168C>A	ENSP00000424595:p.Ala80Ser						p.A80S	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	319	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		80					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.238G>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762381	0.69763	.	.	ENSG00000229937	ENST00000506618	D	0.92249	-3.0	4.67	2.84	0.33178	.	.	.	.	.	D	0.94778	0.8314	M	0.77406	2.37	.	.	.	D	0.61080	0.989	D	0.76071	0.987	D	0.94755	0.7931	8	0.56958	D	0.05	.	7.8737	0.29582	0.1596:0.7536:0.0:0.0869	.	80	P21108	PRPS3_HUMAN	S	80	ENSP00000424595:A80S	ENSP00000424595:A80S	A	-	1	0	PRPS1L1	18033693	0.999000	0.42202	0.132000	0.22025	0.982000	0.71751	4.238000	0.58688	0.686000	0.31488	0.650000	0.86243	GCT		PASS	0.493	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		148	369	148	369	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31692223	31692223	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:31692223G>A	ENST00000407970.3	+	14	2953	c.2915G>A	c.(2914-2916)tGt>tAt	p.C972Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.C998Y|CCDC129_ENST00000319386.3_Missense_Mutation_p.C824Y|CCDC129_ENST00000409210.1_Missense_Mutation_p.C880Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	972								p.C824Y(1)|p.C972Y(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGACTTCATGTTCTAAAATC	0.512																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2914-2916)TGT>TAT		coiled-coil domain containing 129							57.0	49.0	51.0					7																	31692223		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692223G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2915G>A	7.37:g.31692223G>A	ENSP00000384416:p.Cys972Tyr					CCDC129_uc011kad.1_Missense_Mutation_p.C982Y|CCDC129_uc003tci.1_Missense_Mutation_p.C823Y|CCDC129_uc011kae.1_Missense_Mutation_p.C998Y|CCDC129_uc003tck.1_Missense_Mutation_p.C880Y	p.C972Y	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			14	3908	+			972					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2915G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359873	0.11296	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18502	2.21;2.48;2.48;2.21	4.23	0.306	0.15806	.	0.558713	0.15200	N	0.275086	T	0.12050	0.0293	L	0.46157	1.445	0.09310	N	1	P;B;B;B	0.50443	0.935;0.002;0.002;0.118	B;B;B;B	0.37550	0.253;0.005;0.005;0.061	T	0.15578	-1.0432	10	0.66056	D	0.02	3.5639	6.4255	0.21768	0.2607:0.1386:0.6007:0.0	.	998;982;972;824	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Y	824;972;998;982;880	ENSP00000313062:C824Y;ENSP00000384416:C972Y;ENSP00000395835:C998Y;ENSP00000387214:C880Y	ENSP00000313062:C824Y	C	+	2	0	CCDC129	31658748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.040000	0.12104	-0.317000	0.08677	-1.943000	0.00494	TGT		PASS	0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		17	46	17	46	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37951816	37951816	+	Silent	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:37951816T>C	ENST00000436072.2	-	4	1073	c.696A>G	c.(694-696)cgA>cgG	p.R232R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R232R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGACTTGAGTTCGAGGGATGG	0.483																																						uc003tfo.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(694-696)CGA>CGG		secreted frizzled-related  protein 4 precursor							237.0	214.0	221.0					7																	37951816		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951816T>C	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.696A>G	7.37:g.37951816T>C							p.R232R	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			4	1082	-			232			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.696A>G	CCDS5453.1																																																																																				PASS	0.483	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		52	142	52	142	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48335404	48335404	+	Silent	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:48335404T>G	ENST00000435803.1	+	21	9087	c.9063T>G	c.(9061-9063)acT>acG	p.T3021T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3021					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T3021T(1)|p.T2966T(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						AAAATGCCACTGGCCAGGACT	0.488																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9061-9063)ACT>ACG		ATP binding cassette, sub-family A (ABC1),							142.0	147.0	146.0					7																	48335404		1934	4134	6068	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48335404T>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.9063T>G	7.37:g.48335404T>G						ABCA13_uc010kys.1_Silent_p.T95T	p.T3021T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			21	9088	+			3021					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.9063T>G	CCDS47584.1																																																																																				PASS	0.488	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		96	195	96	195	---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56087413	56087413	+	Missense_Mutation	SNP	A	A	G	rs104894036		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:56087413A>G	ENST00000395471.3	-	5	960	c.155T>C	c.(154-156)aTg>aCg	p.M52T	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.M52T			P78330	SERB_HUMAN	phosphoserine phosphatase	52			M -> T (in PSPHD). {ECO:0000269|PubMed:14673469}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.M52T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGCCCCGCCCATGGCTCGCCG	0.612																																						uc003trg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CM040258	PSPH	M	rs104894036	c.(154-156)ATG>ACG		phosphoserine phosphatase							50.0	36.0	40.0					7																	56087413		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56087413A>G	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.155T>C	7.37:g.56087413A>G	ENSP00000378854:p.Met52Thr					PSPH_uc003trh.2_Missense_Mutation_p.M52T|PSPH_uc003tri.2_Missense_Mutation_p.M52T|PSPH_uc003trj.2_Missense_Mutation_p.M81T	p.M52T	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	518	-	Breast(14;0.214)		52		M -> T (in PSPHD).			B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.155T>C	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484976	0.63962	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.86562	-2.14;-2.14;-2.14	4.5	4.5	0.54988	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Phosphoserine phosphatase, domain 2 (1);	0.041700	0.85682	D	0.000000	D	0.95996	0.8696	H	0.98980	4.39	0.80722	A	1	D;D	0.71674	0.998;0.967	D;D	0.74348	0.983;0.976	D	0.98198	1.0466	9	0.87932	D	0	-27.3204	13.14	0.59430	1.0:0.0:0.0:0.0	.	52;52	Q53EY1;P78330	.;SERB_HUMAN	T	52	ENSP00000275605:M52T;ENSP00000378854:M52T;ENSP00000398653:M52T	ENSP00000275605:M52T	M	-	2	0	PSPH	56054907	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	8.637000	0.91014	1.894000	0.54839	0.482000	0.46254	ATG		PASS	0.612	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		9	62	9	62	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77764482	77764482	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:77764482C>G	ENST00000354212.4	-	17	3140	c.2887G>C	c.(2887-2889)Gca>Cca	p.A963P	MAGI2_ENST00000419488.1_Missense_Mutation_p.A949P|MAGI2_ENST00000522391.1_Missense_Mutation_p.A963P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	963	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.A963P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGCGATCTGCAGGACTCCCA	0.463																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2887-2889)GCA>CCA		membrane associated guanylate kinase, WW and PDZ							167.0	148.0	154.0					7																	77764482		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764482C>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2887G>C	7.37:g.77764482C>G	ENSP00000346151:p.Ala963Pro					MAGI2_uc003ugy.2_Missense_Mutation_p.A949P|MAGI2_uc010ldx.1_Missense_Mutation_p.A556P	p.A963P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			17	3141	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	963			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2887G>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519919	0.96416	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.32515	1.45;1.45;1.45	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.36234	U	0.002713	T	0.72961	0.3526	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.81915	-0.0714	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	963;949;963	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	P	949;963;963;963	ENSP00000405766:A949P;ENSP00000346151:A963P;ENSP00000428389:A963P	ENSP00000346151:A963P	A	-	1	0	MAGI2	77602418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.882000	0.98803	0.655000	0.94253	GCA		PASS	0.463	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		72	104	72	104	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88966071	88966071	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:88966071C>A	ENST00000333190.4	+	4	4384	c.3775C>A	c.(3775-3777)Cac>Aac	p.H1259N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1259							metal ion binding (GO:0046872)	p.H1259N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TATCCCTGCACACCCCACTTT	0.478										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3775-3777)CAC>AAC		zinc finger protein 804B							226.0	188.0	201.0					7																	88966071		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966071C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3775C>A	7.37:g.88966071C>A	ENSP00000329638:p.His1259Asn	HNSCC(36;0.09)					p.H1259N	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4313	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1259					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3775C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347784	0.41599	.	.	ENSG00000182348	ENST00000333190	T	0.07908	3.15	4.93	3.02	0.34903	.	0.192138	0.36555	N	0.002536	T	0.18882	0.0453	M	0.72894	2.215	0.31067	N	0.71345	D	0.60575	0.988	P	0.55577	0.779	T	0.06338	-1.0832	10	0.72032	D	0.01	-12.5056	9.8811	0.41233	0.1374:0.7886:0.0:0.074	.	1259	A4D1E1	Z804B_HUMAN	N	1259	ENSP00000329638:H1259N	ENSP00000329638:H1259N	H	+	1	0	ZNF804B	88804007	0.998000	0.40836	0.370000	0.25965	0.328000	0.28507	4.149000	0.58091	1.234000	0.43709	0.561000	0.74099	CAC		PASS	0.478	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		137	309	137	309	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551426	100551426	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:100551426C>T	ENST00000319509.7	+	1	177	c.177C>T	c.(175-177)acC>acT	p.T59T				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1724					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.T59T(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACTACAACCACAGACTTTC	0.488																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							161.0	160.0	160.0					7																	100551426		876	1991	2867	SO:0001819	synonymous_variant	0							g.chr7:100551426C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.177C>T	7.37:g.100551426C>T						uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.677C>T																																																																																					PASS	0.488	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		86	144	86	144	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120911349	120911349	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:120911349G>A	ENST00000310396.5	+	22	3200	c.2733G>A	c.(2731-2733)caG>caA	p.Q911Q		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	911						endoplasmic reticulum (GO:0005783)		p.Q911Q(1)									GTGAAGTACAGAACTTATGGA	0.318																																						uc003vjq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2731-2733)CAG>CAA		hypothetical protein LOC79974 isoform 1							80.0	83.0	82.0					7																	120911349		2203	4300	6503	SO:0001819	synonymous_variant	79974					endoplasmic reticulum		g.chr7:120911349G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2733G>A	7.37:g.120911349G>A							p.Q911Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			22	3180	+	all_neural(327;0.117)		911					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.2733G>A	CCDS34739.1																																																																																				PASS	0.318	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		35	126	35	126	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121612615	121612615	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:121612615G>T	ENST00000393386.2	+	4	736	c.325G>T	c.(325-327)Gac>Tac	p.D109Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D109Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	109	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D109Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTCACTAATGACTACCGTGT	0.338																																						uc003vjy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(325-327)GAC>TAC		protein tyrosine phosphatase, receptor-type,							104.0	101.0	102.0					7																	121612615		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121612615G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.325G>T	7.37:g.121612615G>T	ENSP00000377047:p.Asp109Tyr					PTPRZ1_uc003vjz.2_Missense_Mutation_p.D109Y	p.D109Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			4	720	+			109			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.325G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122864	0.77436	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.67523	-0.27;-0.27	5.85	5.85	0.93711	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.83635	0.5297	M	0.79926	2.475	0.42305	D	0.992199	D;D	0.89917	0.998;1.0	D;D	0.73380	0.944;0.98	D	0.84981	0.0888	10	0.87932	D	0	.	20.1526	0.98091	0.0:0.0:1.0:0.0	.	109;109	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	109	ENSP00000377047:D109Y;ENSP00000410000:D109Y	ENSP00000377047:D109Y	D	+	1	0	PTPRZ1	121399851	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.215000	0.77966	2.770000	0.95276	0.603000	0.83216	GAC		PASS	0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		37	190	37	190	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121942911	121942911	+	Silent	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:121942911T>A	ENST00000442488.2	-	3	1078	c.1011A>T	c.(1009-1011)atA>atT	p.I337I	FEZF1_ENST00000331178.4_Silent_p.I333I|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Silent_p.I287I	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	337					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.I333I(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGCCCGCGTGTATTCGGGTAT	0.408																																						uc003vkd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1009-1011)ATA>ATT		FEZ family zinc finger 1 isoform 1							123.0	120.0	121.0					7																	121942911		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942911T>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1011A>T	7.37:g.121942911T>A						FEZF1_uc003vkc.2_Silent_p.I287I|uc010lko.1_5'Flank	p.I337I	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			3	1085	-			337			C2H2-type 3.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1011A>T	CCDS34741.2																																																																																				PASS	0.408	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		72	266	72	266	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123136839	123136839	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:123136839T>A	ENST00000466202.1	-	7	1721	c.1145A>T	c.(1144-1146)gAa>gTa	p.E382V	IQUB_ENST00000324698.6_Missense_Mutation_p.E382V|IQUB_ENST00000434450.1_Missense_Mutation_p.E382V	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	382					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.E382V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTTCTTTTTCTCTTATCTT	0.338																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1144-1146)GAA>GTA		IQ motif and ubiquitin domain containing							124.0	106.0	112.0					7																	123136839		2203	4298	6501	SO:0001583	missense	154865							g.chr7:123136839T>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1145A>T	7.37:g.123136839T>A	ENSP00000417769:p.Glu382Val					IQUB_uc003vko.2_Missense_Mutation_p.E382V|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.E382V	p.E382V	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			7	1722	-			382					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1145A>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313586	0.60414	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.54479	1.61;1.61;0.57	5.04	3.81	0.43845	.	0.099878	0.64402	D	0.000003	T	0.69842	0.3156	M	0.83953	2.67	0.42513	D	0.992971	D;D	0.71674	0.997;0.998	D;D	0.63283	0.911;0.913	T	0.75584	-0.3267	10	0.72032	D	0.01	.	11.6052	0.51029	0.1331:0.0:0.0:0.8669	.	382;382	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	V	382	ENSP00000417769:E382V;ENSP00000324882:E382V;ENSP00000388498:E382V	ENSP00000324882:E382V	E	-	2	0	IQUB	122924075	1.000000	0.71417	0.999000	0.59377	0.607000	0.37147	4.353000	0.59411	2.009000	0.58944	0.460000	0.39030	GAA		PASS	0.338	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		70	110	70	110	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126544700	126544700	+	Silent	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:126544700A>G	ENST00000339582.2	-	4	1573	c.765T>C	c.(763-765)cgT>cgC	p.R255R	GRM8_ENST00000444921.2_Silent_p.R255R|GRM8_ENST00000405249.1_Silent_p.R255R|GRM8_ENST00000358373.3_Silent_p.R255R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	255					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R255R(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTCTTGGTTCACGTGGGATTT	0.393										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(763-765)CGT>CGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						91.0	91.0	91.0					7																	126544700		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544700A>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.765T>C	7.37:g.126544700A>G		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R255R|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	p.R255R	NM_000845	NP_000836	O00222	GRM8_HUMAN			3	1076	-		Prostate(267;0.186)	255			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.765T>C	CCDS5794.1																																																																																				PASS	0.393	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			47	215	47	215	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700864	136700865	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:136700864_136700865CC>AA	ENST00000445907.2	+	3	1780_1781	c.1252_1253CC>AA	c.(1252-1254)CCc>AAc	p.P418N	hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P418N|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P418N|CHRM2_ENST00000402486.3_Missense_Mutation_p.P418N|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P418N|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P418N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	418					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.P418H(1)|p.P418T(1)|p.P418N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCTTGCATCCCCAACACTGTG	0.46																																						uc003vtf.1																			3	Substitution - Missense(3)		lung(3)	ovary(4)|central_nervous_system(1)	5						c.(1252-1254)CCC>ACC|c.(1252-1254)CCC>CAC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)																																			SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700864C>A|g.chr7:136700865C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	Exception_encountered	7.37:g.136700864_136700865delinsAA	ENSP00000399745:p.Pro418Asn					CHRM2_uc003vtg.1_Missense_Mutation_p.P418T|CHRM2_uc003vtj.1_Missense_Mutation_p.P418T|CHRM2_uc003vtk.1_Missense_Mutation_p.P418T|CHRM2_uc003vtl.1_Missense_Mutation_p.P418T|CHRM2_uc003vtm.1_Missense_Mutation_p.P418T|CHRM2_uc003vti.1_Missense_Mutation_p.P418T|CHRM2_uc003vto.1_Missense_Mutation_p.P418T|CHRM2_uc003vtn.1_Missense_Mutation_p.P418T|uc003vtp.1_Intron|CHRM2_uc003vtg.1_Missense_Mutation_p.P418H|CHRM2_uc003vtj.1_Missense_Mutation_p.P418H|CHRM2_uc003vtk.1_Missense_Mutation_p.P418H|CHRM2_uc003vtl.1_Missense_Mutation_p.P418H|CHRM2_uc003vtm.1_Missense_Mutation_p.P418H|CHRM2_uc003vti.1_Missense_Mutation_p.P418H|CHRM2_uc003vto.1_Missense_Mutation_p.P418H|CHRM2_uc003vtn.1_Missense_Mutation_p.P418H|uc003vtp.1_Intron	p.P418T|p.P418H	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1875|1876	+			418			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1252C>A|c.1253C>A	CCDS5843.1																																																																																				PASS	0.460	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			116	280	116	280	---	---	---	---
PRSS37	136242	broad.mit.edu	37	7	141536980	141536980	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr7:141536980C>G	ENST00000350549.3	-	4	870	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.E167Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	167	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.E167Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TTTCCTTGTTCTGTTTTTTGG	0.433																																						uc003vws.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(499-501)GAA>CAA		protease, serine, 37 precursor							126.0	125.0	125.0					7																	141536980		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536980C>G		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.499G>C	7.37:g.141536980C>G	ENSP00000297767:p.Glu167Gln					PRSS37_uc011krk.1_Missense_Mutation_p.E154Q|PRSS37_uc011krl.1_Missense_Mutation_p.E166Q|PRSS37_uc003vwt.1_Missense_Mutation_p.E154Q	p.E167Q	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN			4	871	-			167			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.499G>C	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	9.282	1.048351	0.19827	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.41758	0.99;0.99	5.65	3.68	0.42216	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.192190	0.37219	N	0.002192	T	0.24586	0.0596	N	0.16478	0.41	0.09310	N	0.99999	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.014	T	0.15407	-1.0438	10	0.87932	D	0	.	6.1045	0.20065	0.0:0.6939:0.2032:0.1029	.	166;167	B7ZMK3;A4D1T9	.;PRS37_HUMAN	Q	167	ENSP00000297767:E167Q;ENSP00000414461:E167Q	ENSP00000297767:E167Q	E	-	1	0	PRSS37	141183449	0.069000	0.21087	0.873000	0.34254	0.159000	0.22180	0.128000	0.15810	1.585000	0.49928	0.655000	0.94253	GAA		PASS	0.433	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		47	182	47	182	---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39089565	39089565	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:39089565T>A	ENST00000379907.4	+	15	1672	c.1545T>A	c.(1543-1545)ttT>ttA	p.F515L	ADAM32_ENST00000519315.1_Missense_Mutation_p.F409L|ADAM32_ENST00000437682.2_Missense_Mutation_p.F416L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	515						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F514L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGCTCCATTTGCCTGCTATG	0.338																																						uc003xmt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(1543-1545)TTT>TTA		a disintegrin and metalloprotease domain 32							126.0	123.0	124.0					8																	39089565		1830	4080	5910	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39089565T>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1545T>A	8.37:g.39089565T>A	ENSP00000369238:p.Phe515Leu					ADAM32_uc011lch.1_Missense_Mutation_p.F416L|ADAM32_uc003xmu.3_Missense_Mutation_p.F409L|ADAM32_uc003xmv.2_Intron	p.F515L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		15	1790	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	515			Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1545T>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279649	0.59758	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.21191	2.02;2.02;2.02	5.5	5.5	0.81552	ADAM, cysteine-rich (2);	0.000000	0.34291	N	0.004082	T	0.32734	0.0839	L	0.48174	1.505	0.31264	N	0.69261	D;B;B	0.63046	0.992;0.288;0.096	P;B;B	0.61201	0.885;0.069;0.173	T	0.17531	-1.0366	10	0.21540	T	0.41	.	11.9251	0.52814	0.0:0.0:0.0:1.0	.	416;409;515	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	L	416;409;515	ENSP00000405978:F416L;ENSP00000429422:F409L;ENSP00000369238:F515L	ENSP00000369238:F515L	F	+	3	2	ADAM32	39208722	0.988000	0.35896	0.978000	0.43139	0.641000	0.38312	2.421000	0.44688	2.308000	0.77769	0.533000	0.62120	TTT		PASS	0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		45	113	45	113	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48772318	48772318	+	Missense_Mutation	SNP	C	C	A	rs541975682		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:48772318C>A	ENST00000314191.2	-	47	6114	c.6058G>T	c.(6058-6060)Ggt>Tgt	p.G2020C	PRKDC_ENST00000338368.3_Missense_Mutation_p.G2020C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2021		Cleavage; by caspase-3. {ECO:0000305}.			B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.G2020C(1)|p.G2021C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAGGAAGGACCATCTGAAATA	0.313								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0014	5008	,	,		18566	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(6061-6063)GGT>TGT	NHEJ	protein kinase, DNA-activated, catalytic							45.0	43.0	44.0					8																	48772318		1828	4081	5909	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772318C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6058G>T	8.37:g.48772318C>A	ENSP00000313420:p.Gly2020Cys					PRKDC_uc003xqj.2_Missense_Mutation_p.G2021C|PRKDC_uc011ldh.1_Intron	p.G2021C	NM_006904	NP_008835	P78527	PRKDC_HUMAN			47	6118	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2021				Cleavage; by caspase-3 (Probable).	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6061G>T		.	.	.	.	.	.	.	.	.	.	C	17.18	3.323860	0.60634	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.29917	1.55;1.55	5.9	5.01	0.66863	NUC194 (1);Armadillo-type fold (1);	0.426594	0.25804	N	0.028196	T	0.43523	0.1251	L	0.44542	1.39	0.43652	D	0.996069	D;D	0.63046	0.992;0.992	P;P	0.59948	0.866;0.866	T	0.36625	-0.9740	10	0.66056	D	0.02	.	13.2556	0.60076	0.0:0.9232:0.0:0.0768	.	2020;2021	E7EUY0;P78527	.;PRKDC_HUMAN	C	2020	ENSP00000313420:G2020C;ENSP00000345182:G2020C	ENSP00000313420:G2020C	G	-	1	0	PRKDC	48934871	1.000000	0.71417	0.801000	0.32222	0.703000	0.40648	4.560000	0.60802	1.465000	0.48006	0.561000	0.74099	GGT		PASS	0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		36	93	36	93	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765230	61765230	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:61765230G>T	ENST00000423902.2	+	30	6547	c.6068G>T	c.(6067-6069)aGg>aTg	p.R2023M	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2023					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.R2023M(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)			GCCATGTGTAGGCGAGTATGT	0.393																																						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.(6067-6069)AGG>ATG		chromodomain helicase DNA binding protein 7							68.0	64.0	66.0					8																	61765230		1884	4122	6006	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.chr8:61765230G>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.6068G>T	8.37:g.61765230G>T	ENSP00000392028:p.Arg2023Met						p.R2023M	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		30	6545	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2023					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6068G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212779	0.79352	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90900	-2.75	5.48	5.48	0.80851	.	0.056968	0.64402	D	0.000004	D	0.94729	0.8299	M	0.69523	2.12	0.44603	D	0.99757	D	0.64830	0.994	D	0.64042	0.921	D	0.94984	0.8128	10	0.87932	D	0	-18.1381	19.3552	0.94410	0.0:0.0:1.0:0.0	.	2023	Q9P2D1	CHD7_HUMAN	M	2023	ENSP00000392028:R2023M	ENSP00000307304:R2023M	R	+	2	0	CHD7	61927784	1.000000	0.71417	0.959000	0.39883	0.998000	0.95712	6.382000	0.73167	2.583000	0.87209	0.655000	0.94253	AGG		PASS	0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		26	69	26	69	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70585503	70585503	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:70585503C>A	ENST00000260126.4	-	10	2854	c.2148G>T	c.(2146-2148)tgG>tgT	p.W716C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.W661C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	716						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.W716C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATTCCTGTTGCCAGAGCATGC	0.478																																						uc003xyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2146-2148)TGG>TGT		solute carrier organic anion transporter family,							152.0	152.0	152.0					8																	70585503		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585503C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2148G>T	8.37:g.70585503C>A	ENSP00000260126:p.Trp716Cys					SLCO5A1_uc010lzb.2_Missense_Mutation_p.W661C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.W716C	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2855	-	Breast(64;0.0654)		716			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2148G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167288	0.78339	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.60920	0.15;0.15	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87521	0.2446	10	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	661;716	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	C	716;661	ENSP00000260126:W716C;ENSP00000431611:W661C	ENSP00000260126:W716C	W	-	3	0	SLCO5A1	70748057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.944000	0.70219	2.826000	0.97356	0.655000	0.94253	TGG		PASS	0.478	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		30	331	30	331	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763271	77763271	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:77763271G>T	ENST00000521891.2	+	10	4562	c.4114G>T	c.(4114-4116)Gac>Tac	p.D1372Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1327Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1346Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1327Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D1372Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAATCCCCGACACACTGCA	0.423										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3979-3981)GAC>TAC		zinc finger homeodomain 4							96.0	91.0	92.0					8																	77763271		1877	4101	5978	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763271G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4114G>T	8.37:g.77763271G>T	ENSP00000430497:p.Asp1372Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.D1372Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1327Y	p.D1327Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4366	+			1327					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3979G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430325	0.25726	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.75;0.72;0.71	4.65	4.65	0.58169	.	0.000000	0.46442	U	0.000298	T	0.63498	0.2516	M	0.68317	2.08	0.80722	D	1	P;P;P	0.51537	0.91;0.946;0.946	P;P;P	0.56916	0.648;0.809;0.809	T	0.67538	-0.5645	10	0.66056	D	0.02	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	1327;1327;1372	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1372;1372;1327;1327;1346	ENSP00000430497:D1372Y;ENSP00000399605:D1327Y;ENSP00000050961:D1327Y;ENSP00000430848:D1346Y	ENSP00000050961:D1327Y	D	+	1	0	ZFHX4	77925826	1.000000	0.71417	0.124000	0.21820	0.259000	0.26198	9.601000	0.98297	2.593000	0.87608	0.555000	0.69702	GAC		PASS	0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	78	16	78	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768135	77768135	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr8:77768135A>C	ENST00000521891.2	+	10	9426	c.8978A>C	c.(8977-8979)aAg>aCg	p.K2993T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2948T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2967T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2948T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2948					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K2977T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACATAGGGAAGCCTTTCATG	0.468										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8842-8844)AAG>ACG		zinc finger homeodomain 4							43.0	42.0	42.0					8																	77768135		1924	4124	6048	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768135A>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8978A>C	8.37:g.77768135A>C	ENSP00000430497:p.Lys2993Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.K2993T|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2948T	p.K2948T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9230	+			2948					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8843A>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322325	0.41096	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.61;0.58;0.57	5.17	5.17	0.71159	Homeodomain-related (1);	0.000000	0.46758	U	0.000279	T	0.71668	0.3367	M	0.75264	2.295	0.80722	D	1	D;D;D	0.65815	0.983;0.99;0.995	D;D;D	0.81914	0.979;0.991;0.995	T	0.73701	-0.3900	10	0.49607	T	0.09	.	15.1679	0.72842	1.0:0.0:0.0:0.0	.	2948;2948;2993	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2993;2977;2948;2948;2967	ENSP00000430497:K2993T;ENSP00000399605:K2948T;ENSP00000050961:K2948T;ENSP00000430848:K2967T	ENSP00000050961:K2948T	K	+	2	0	ZFHX4	77930690	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.130000	0.94437	2.170000	0.68504	0.523000	0.50628	AAG		PASS	0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	48	9	48	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88203244	88203244	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:88203244T>C	ENST00000357081.3	-	21	3016	c.2872A>G	c.(2872-2874)Atg>Gtg	p.M958V	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M970V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M918V|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	958					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M918V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGATTTAACATAGGGACAATT	0.343																																						uc011ltd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(2872-2874)ATG>GTG		ATP/GTP binding protein 1							74.0	71.0	72.0					9																	88203244		2202	4300	6502	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88203244T>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2872A>G	9.37:g.88203244T>C	ENSP00000349592:p.Met958Val					AGTPBP1_uc004aod.3_Missense_Mutation_p.M584V|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.M918V|AGTPBP1_uc011lte.1_Missense_Mutation_p.M970V	p.M958V	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			20	2905	-			958					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2872A>G		.	.	.	.	.	.	.	.	.	.	T	24.3	4.515073	0.85389	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.09723	2.95;2.95;2.95	6.06	6.06	0.98353	Peptidase M14, carboxypeptidase A (1);	0.082090	0.85682	D	0.000000	T	0.41050	0.1142	M	0.90650	3.135	0.80722	D	1	D;D;D	0.76494	0.966;0.999;0.982	P;D;D	0.68039	0.805;0.955;0.918	T	0.48927	-0.8991	10	0.72032	D	0.01	-24.754	16.6093	0.84858	0.0:0.0:0.0:1.0	.	970;958;918	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	V	958;918;970	ENSP00000349592:M958V;ENSP00000365251:M918V;ENSP00000365277:M970V	ENSP00000349592:M958V	M	-	1	0	AGTPBP1	87393064	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.945000	0.87732	2.324000	0.78689	0.533000	0.62120	ATG		PASS	0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		27	86	27	86	---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114325433	114325433	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:114325433C>A	ENST00000407693.2	-	10	1220	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	PTGR1_ENST00000309195.5_Missense_Mutation_p.D320Y|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Intron	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	320					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)	p.D320Y(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CCCAAATTATCTCCTTTCAGC	0.353																																					Ovarian(200;132 2151 7551 19220 46064)	uc004bfh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)GAT>TAT		prostaglandin reductase 1 isoform 1							161.0	141.0	148.0					9																	114325433		2202	4300	6502	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114325433C>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.958G>T	9.37:g.114325433C>A	ENSP00000385763:p.Asp320Tyr					ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Intron|PTGR1_uc004bfi.3_Missense_Mutation_p.D320Y|PTGR1_uc004bfj.3_3'UTR	p.D320Y	NM_012212	NP_036344	Q14914	PTGR1_HUMAN			10	1061	-			320					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.958G>T	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895607	0.72639	.	.	ENSG00000106853	ENST00000309195;ENST00000407693	T;T	0.76839	-1.05;-1.05	5.01	4.09	0.47781	GroES-like (1);	0.478139	0.24287	N	0.039856	T	0.79563	0.4467	M	0.67700	2.07	0.80722	D	1	P	0.50156	0.932	P	0.47915	0.561	T	0.82731	-0.0312	10	0.72032	D	0.01	-12.3636	13.404	0.60900	0.0:0.9165:0.0:0.0835	.	320	Q14914	PTGR1_HUMAN	Y	320	ENSP00000311572:D320Y;ENSP00000385763:D320Y	ENSP00000311572:D320Y	D	-	1	0	PTGR1	113365254	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	6.676000	0.74498	2.492000	0.84095	0.557000	0.71058	GAT		PASS	0.353	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			35	105	35	105	---	---	---	---
TRAF1	7185	broad.mit.edu	37	9	123675887	123675887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:123675887C>A	ENST00000373887.3	-	5	2869	c.424G>T	c.(424-426)Gag>Tag	p.E142*	TRAF1_ENST00000546084.1_Nonsense_Mutation_p.E20*|TRAF1_ENST00000540010.1_Nonsense_Mutation_p.E142*	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	142					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E142*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AGGTTCTGCTCCAGGGCCATG	0.652											OREG0005350	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=TRAF1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc004bku.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(424-426)GAG>TAG		TNF receptor-associated factor 1							37.0	39.0	38.0					9																	123675887		2203	4300	6503	SO:0001587	stop_gained	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675887C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.424G>T	9.37:g.123675887C>A	ENSP00000362994:p.Glu142*		OREG0005350	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=TRAF1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1528	TRAF1_uc011lyg.1_Nonsense_Mutation_p.E20*|TRAF1_uc010mvl.1_Nonsense_Mutation_p.E142*	p.E142*	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	996	-			142					B4DJ77|Q658U1|Q8NF13	Nonsense_Mutation	SNP	ENST00000373887.3	37	c.424G>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	37	6.515490	0.97629	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	.	.	.	5.28	5.28	0.74379	.	0.303860	0.32444	N	0.006091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-29.2362	17.8729	0.88816	0.0:1.0:0.0:0.0	.	.	.	.	X	142;142;20	.	ENSP00000362994:E142X	E	-	1	0	TRAF1	122715708	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.624000	0.74243	2.461000	0.83175	0.455000	0.32223	GAG		PASS	0.652	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		21	72	21	72	---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125282113	125282113	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:125282113A>G	ENST00000340750.1	+	1	694	c.694A>G	c.(694-696)Aag>Gag	p.K232E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K232E(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCCATCTACTAAGGGCATCTT	0.463																																						uc011lyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)AAG>GAG		olfactory receptor, family 1, subfamily J,							158.0	145.0	149.0					9																	125282113		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282113A>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.694A>G	9.37:g.125282113A>G	ENSP00000343521:p.Lys232Glu						p.K232E	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	694	+			232			Cytoplasmic (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.694A>G	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236759	0.22711	.	.	ENSG00000239590	ENST00000340750	T	0.00034	8.87	5.54	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.455880	0.15872	U	0.240470	T	0.00178	0.0005	N	0.13043	0.29	0.09310	N	1	P	0.49696	0.927	P	0.56216	0.794	T	0.65994	-0.6033	10	0.31617	T	0.26	.	8.3161	0.32102	0.8471:0.0:0.1529:0.0	.	232	Q8NGS1	OR1J4_HUMAN	E	232	ENSP00000343521:K232E	ENSP00000343521:K232E	K	+	1	0	OR1J4	124321934	0.000000	0.05858	0.096000	0.21009	0.017000	0.09413	0.108000	0.15396	2.340000	0.79590	0.529000	0.55759	AAG		PASS	0.463	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			49	143	49	143	---	---	---	---
PTGES2	80142	broad.mit.edu	37	9	130889721	130889721	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:130889721C>A	ENST00000338961.6	-	1	1020	c.276G>T	c.(274-276)gcG>gcT	p.A92A	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Intron|AL590708.2_ENST00000443493.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	92	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)	p.A92A(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GCCTTACCTGCGCGGCTGAGC	0.721																																						uc004bti.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)GCG>GCT		prostaglandin E synthase 2							7.0	7.0	7.0					9																	130889721		1748	3548	5296	SO:0001819	synonymous_variant	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130889721C>A	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.276G>T	9.37:g.130889721C>A						PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Intron|PTGES2_uc004btl.2_Intron|PTGES2_uc004btm.2_Intron|LOC389791_uc004btn.2_5'Flank	p.A92A	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			1	754	-			92			Glutaredoxin.|Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	ENST00000338961.6	37	c.276G>T	CCDS6891.1																																																																																				PASS	0.721	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			3	15	3	15	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137717724	137717724	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr9:137717724G>T	ENST00000371817.3	+	63	5455	c.5041G>T	c.(5041-5043)Gtc>Ttc	p.V1681F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1681	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.V1681I(1)|p.V1681F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCGACATGCGTCTTCCCTGA	0.577																																						uc004cfe.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5041-5043)GTC>TTC		alpha 1 type V collagen preproprotein							75.0	64.0	68.0					9																	137717724		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717724G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5041G>T	9.37:g.137717724G>T	ENSP00000360882:p.Val1681Phe					uc004cff.2_Intron	p.V1681F	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5423	+		Myeloproliferative disorder(178;0.0341)	1681			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5041G>T	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.225322|2.225322	0.39300|0.39300	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371820|ENST00000371817;ENST00000355306	.|T	.|0.76968	.|-1.06	4.12|4.12	0.482|0.482	0.16815|0.16815	.|Fibrillar collagen, C-terminal (3);	.|0.078334	.|0.49305	.|U	.|0.000153	T|T	0.72684|0.72684	0.3491|0.3491	M|M	0.66939|0.66939	2.045|2.045	0.35483|0.35483	D|D	0.798317|0.798317	.|B	.|0.25007	.|0.116	.|B	.|0.31751	.|0.135	T|T	0.71009|0.71009	-0.4716|-0.4716	5|10	.|0.87932	.|D	.|0	.|.	6.5278|6.5278	0.22310|0.22310	0.7394:0.0:0.2606:0.0|0.7394:0.0:0.2606:0.0	.|.	.|1681	.|P20908	.|CO5A1_HUMAN	L|F	100|1681;218	.|ENSP00000360882:V1681F	.|ENSP00000347458:V218F	R|V	+|+	2|1	0|0	COL5A1|COL5A1	136857545|136857545	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.577000|0.577000	0.36160|0.36160	3.841000|3.841000	0.55850|0.55850	0.192000|0.192000	0.20272|0.20272	0.289000|0.289000	0.19496|0.19496	CGT|GTC		PASS	0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	51	12	51	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26830517	26830517	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:26830517C>A	ENST00000376236.4	+	11	1506	c.1051C>A	c.(1051-1053)Cga>Aga	p.R351R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	351	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R351R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAGACATCTCGAGATCTGGC	0.338																																						uc001iss.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1051-1053)CGA>AGA		amyloid beta (A4) precursor protein-binding,							71.0	72.0	71.0					10																	26830517		2202	4298	6500	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26830517C>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1051C>A	10.37:g.26830517C>A						APBB1IP_uc009xks.1_Silent_p.R351R	p.R351R	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			11	1372	+			351			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.1051C>A	CCDS31167.1																																																																																				PASS	0.338	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		14	46	14	46	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27382415	27382415	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:27382415G>C	ENST00000376087.4	-	3	559	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L132V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	132					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L132V(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTCTAGCAGAATAGTTGCA	0.418																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(394-396)CTG>GTG		ankyrin repeat domain 26							157.0	146.0	149.0					10																	27382415		2005	4211	6216	SO:0001583	missense	22852					centrosome		g.chr10:27382415G>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.394C>G	10.37:g.27382415G>C	ENSP00000365255:p.Leu132Val					ANKRD26_uc009xku.1_Missense_Mutation_p.L132V	p.L132V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			3	566	-			132			ANK 3.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.394C>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625100	0.87560	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.80480	-1.38;-1.38	4.15	4.15	0.48705	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.90249	0.6951	M	0.92122	3.275	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.90811	0.4701	9	0.87932	D	0	.	7.7161	0.28704	0.1138:0.0:0.8862:0.0	.	132;132	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	V	132	ENSP00000365255:L132V;ENSP00000405112:L132V	ENSP00000365255:L132V	L	-	1	2	ANKRD26	27422421	0.995000	0.38212	0.030000	0.17652	0.893000	0.52053	2.327000	0.43858	2.155000	0.67459	0.484000	0.47621	CTG		PASS	0.418	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			13	131	13	131	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50952155	50952155	+	Silent	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:50952155T>A	ENST00000374103.4	-	14	1831	c.1746A>T	c.(1744-1746)gtA>gtT	p.V582V	OGDHL_ENST00000419399.1_Silent_p.V525V|OGDHL_ENST00000432695.1_Silent_p.V373V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	582					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.V582V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTCCCCATCTACGTTGAAGA	0.627																																						uc001jie.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1744-1746)GTA>GTT		oxoglutarate dehydrogenase-like isoform a							105.0	84.0	91.0					10																	50952155		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952155T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1746A>T	10.37:g.50952155T>A						OGDHL_uc009xog.2_Silent_p.V609V|OGDHL_uc010qgt.1_Silent_p.V525V|OGDHL_uc010qgu.1_Silent_p.V373V|OGDHL_uc009xoh.2_Silent_p.V373V	p.V582V	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			14	1888	-			582					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1746A>T	CCDS7234.1																																																																																				PASS	0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		16	37	16	37	---	---	---	---
ANXA7	310	broad.mit.edu	37	10	75147502	75147502	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:75147502C>T	ENST00000372921.5	-	7	634	c.578G>A	c.(577-579)cGt>cAt	p.R193H	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.R63H	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	215					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.R215H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATCATTGGAACGGTTGGCCAC	0.458																																						uc001jtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(643-645)CGT>CAT		annexin VII isoform 2							223.0	208.0	213.0					10																	75147502		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75147502C>T	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.578G>A	10.37:g.75147502C>T	ENSP00000362012:p.Arg193His					ANXA7_uc001jua.2_Missense_Mutation_p.R193H|ANXA7_uc001jub.2_Missense_Mutation_p.R153H|ANXA7_uc010qki.1_Missense_Mutation_p.R103H|ANXA7_uc009xre.2_Missense_Mutation_p.R122H|ANXA7_uc009xrf.1_Missense_Mutation_p.R135H	p.R215H	NM_004034	NP_004025	P20073	ANXA7_HUMAN			8	717	-	Prostate(51;0.0119)		215			Annexin 1.		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.644G>A	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432517	0.83776	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.12774	2.65;2.65;2.65	5.96	4.13	0.48395	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.88105	2.93	0.50632	D	0.999886	P;P;P;P;P	0.51653	0.944;0.947;0.818;0.931;0.947	P;P;B;B;B	0.46585	0.48;0.521;0.298;0.348;0.381	T	0.17018	-1.0383	10	0.72032	D	0.01	.	10.9567	0.47362	0.0:0.8483:0.0:0.1517	.	193;193;120;193;215	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	H	193;215;63	ENSP00000362012:R193H;ENSP00000362010:R215H;ENSP00000442864:R63H	ENSP00000362010:R215H	R	-	2	0	ANXA7	74817508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.022000	0.70839	0.871000	0.35750	0.650000	0.86243	CGT		PASS	0.458	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		32	178	32	178	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87966375	87966375	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:87966375G>A	ENST00000327946.7	-	3	351	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	89					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A89V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGTGACCAAGGCCAAAATCCC	0.592										Multiple Myeloma(13;0.14)																												uc001kdl.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(265-267)GCC>GTC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						82.0	55.0	64.0					10																	87966375		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966375G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.266C>T	10.37:g.87966375G>A	ENSP00000330148:p.Ala89Val	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.A89V	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			3	367	-			89			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.266C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545250	0.96488	.	.	ENSG00000182771	ENST00000327946	D	0.86956	-2.19	6.02	6.02	0.97574	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.92455	0.5973	10	0.87932	D	0	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	89	Q9ULK0	GRID1_HUMAN	V	89	ENSP00000330148:A89V	ENSP00000330148:A89V	A	-	2	0	GRID1	87956355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCC		PASS	0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		10	46	10	46	---	---	---	---
FRA10AC1	118924	broad.mit.edu	37	10	95454663	95454663	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:95454663T>C	ENST00000359204.4	-	5	448	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.Y84C|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.Y84C|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.Y84C	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	84						nucleus (GO:0005634)		p.Y84C(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						GTATAAAATATAGTCATTTAC	0.328																																						uc001kiz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(250-252)TAT>TGT		FRA10AC1 protein							178.0	177.0	177.0					10																	95454663		2203	4300	6503	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95454663T>C	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.251A>G	10.37:g.95454663T>C	ENSP00000360488:p.Tyr84Cys					C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Missense_Mutation_p.Y84C|C10orf4_uc001kjb.1_Missense_Mutation_p.Y84C|C10orf4_uc009xuh.1_Missense_Mutation_p.Y85C	p.Y84C	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN			5	449	-		Colorectal(252;0.122)	84					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.251A>G	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811100	0.70797	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.38240	1.23;1.26;1.15;1.19	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.68648	-0.5353	10	0.87932	D	0	-7.4946	14.7312	0.69383	0.0:0.0:0.0:1.0	.	84;84;84	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	C	84	ENSP00000360488:Y84C;ENSP00000438405:Y84C;ENSP00000360484:Y84C;ENSP00000377660:Y84C	ENSP00000360488:Y84C	Y	-	2	0	FRA10AC1	95444653	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.043000	0.76572	1.870000	0.54199	0.533000	0.62120	TAT		PASS	0.328	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		83	304	83	304	---	---	---	---
ALDH18A1	5832	broad.mit.edu	37	10	97376254	97376254	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:97376254C>G	ENST00000371224.2	-	13	1722	c.1585G>C	c.(1585-1587)Gtc>Ctc	p.V529L	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.V527L	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	529	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.V529L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GCCTCCTTGACTCCATGGATT	0.552																																						uc001kkz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1585-1587)GTC>CTC		pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)						56.0	42.0	47.0					10																	97376254		2200	4298	6498	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97376254C>G	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1585G>C	10.37:g.97376254C>G	ENSP00000360268:p.Val529Leu					ALDH18A1_uc001kky.2_Missense_Mutation_p.V527L|ALDH18A1_uc010qog.1_Missense_Mutation_p.V418L|ALDH18A1_uc010qoh.1_Missense_Mutation_p.V317L	p.V529L	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	13	1827	-		Colorectal(252;0.0402)	529			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.1585G>C	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320969	0.41096	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75821	-0.97;-0.97	5.49	4.58	0.56647	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.052998	0.85682	D	0.000000	T	0.58836	0.2150	N	0.25647	0.755	0.58432	D	0.999999	B;B	0.17667	0.023;0.019	B;B	0.14578	0.011;0.007	T	0.52609	-0.8553	10	0.10111	T	0.7	-22.3506	12.6647	0.56835	0.0:0.9194:0.0:0.0806	.	529;527	P54886;P54886-2	P5CS_HUMAN;.	L	529;527	ENSP00000360268:V529L;ENSP00000360265:V527L	ENSP00000360265:V527L	V	-	1	0	ALDH18A1	97366244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.955000	0.49121	1.464000	0.47987	0.655000	0.94253	GTC		PASS	0.552	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		4	11	4	11	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108924028	108924028	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:108924028G>T	ENST00000263054.6	-	1	264	c.257C>A	c.(256-258)gCg>gAg	p.A86E	SORCS1_ENST00000344440.6_Missense_Mutation_p.A86E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	86					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A86E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATAGCGCTCGGTCCCC	0.711																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(256-258)GCG>GAG		SORCS receptor 1 isoform a							9.0	11.0	10.0					10																	108924028		2185	4281	6466	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108924028G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.257C>A	10.37:g.108924028G>T	ENSP00000263054:p.Ala86Glu					SORCS1_uc001kyl.2_Missense_Mutation_p.A86E|SORCS1_uc009xxs.2_Missense_Mutation_p.A86E|SORCS1_uc001kyn.1_Missense_Mutation_p.A86E|SORCS1_uc001kyo.2_Missense_Mutation_p.A86E	p.A86E	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	265	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	86			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.257C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657153	0.47467	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.19669	2.13;2.16	4.45	0.557	0.17260	.	1.175710	0.06530	N	0.741349	T	0.10165	0.0249	N	0.14661	0.345	0.26938	N	0.966318	B;B;B;B;B	0.31485	0.218;0.325;0.325;0.218;0.325	B;B;B;B;B	0.26202	0.03;0.067;0.067;0.03;0.067	T	0.31998	-0.9923	9	.	.	.	-4.1942	3.4587	0.07524	0.3901:0.0:0.4356:0.1743	.	86;86;86;86;86	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	86	ENSP00000263054:A86E;ENSP00000345964:A86E	.	A	-	2	0	SORCS1	108914018	0.002000	0.14202	0.967000	0.41034	0.375000	0.29983	-0.408000	0.07169	-0.066000	0.12998	-0.218000	0.12543	GCG		PASS	0.711	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	11	9	11	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	116930885	116930885	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:116930885T>C	ENST00000355044.3	+	8	1309	c.1183T>C	c.(1183-1185)Tgg>Cgg	p.W395R	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Silent_p.H365H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	395					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.W395R(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)		TAGTCAGTCATGGAGTACAAA	0.373																																						uc001lcg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1183-1185)TGG>CGG		attractin-like 1 precursor							181.0	169.0	173.0					10																	116930885		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116930885T>C	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.1183T>C	10.37:g.116930885T>C	ENSP00000347152:p.Trp395Arg					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.W395R|ATRNL1_uc009xyq.2_Silent_p.H365H	p.W395R	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)	8	1569	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	395			Kelch 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1183T>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446883	0.84101	.	.	ENSG00000107518	ENST00000355044	D	0.81996	-1.56	5.87	5.87	0.94306	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.91821	0.5467	10	0.87932	D	0	-12.275	16.2631	0.82557	0.0:0.0:0.0:1.0	.	395;395	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	R	395	ENSP00000347152:W395R	ENSP00000347152:W395R	W	+	1	0	ATRNL1	116920875	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.319000	0.79040	2.239000	0.73571	0.528000	0.53228	TGG		PASS	0.373	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		84	234	84	234	---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127464327	127464327	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr10:127464327T>G	ENST00000368808.3	-	1	63	c.64A>C	c.(64-66)Acc>Ccc	p.T22P		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	22					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T22P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TCGGGCTGGGTGGGCCAGGGA	0.682																																						uc001liu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(64-66)ACC>CCC		matrix metalloproteinase 21 preproprotein							47.0	56.0	53.0					10																	127464327		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464327T>G	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.64A>C	10.37:g.127464327T>G	ENSP00000357798:p.Thr22Pro						p.T22P	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			1	64	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	22					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.64A>C	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	T	5.852	0.341401	0.11069	.	.	ENSG00000154485	ENST00000368808	T	0.18810	2.19	4.68	-1.82	0.07857	.	1.647650	0.03465	N	0.212802	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	B	0.26975	0.165	B	0.20955	0.032	T	0.26395	-1.0104	10	0.54805	T	0.06	-3.946	3.8942	0.09131	0.2637:0.3459:0.0:0.3904	.	22	Q8N119	MMP21_HUMAN	P	22	ENSP00000357798:T22P	ENSP00000357798:T22P	T	-	1	0	MMP21	127454317	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.867000	0.04241	-0.231000	0.09825	-0.468000	0.05107	ACC		PASS	0.682	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			6	33	6	33	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7334800	7334800	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:7334800G>A	ENST00000318881.6	+	3	909	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SYT9_ENST00000396716.2_Silent_p.L192L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L224L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTGGGAAACTGAACTTCATTT	0.413																																						uc001mfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(670-672)CTG>CTA		synaptotagmin IX							134.0	137.0	136.0					11																	7334800		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334800G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.672G>A	11.37:g.7334800G>A						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.L224L	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	909	+			224			Cytoplasmic (Potential).|C2 1.			Silent	SNP	ENST00000318881.6	37	c.672G>A	CCDS7778.1																																																																																				PASS	0.413	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		28	143	28	143	---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18743146	18743146	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:18743146C>T	ENST00000513874.1	-	4	453	c.314G>A	c.(313-315)gGc>gAc	p.G105D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	105	Ig-like 1.							p.G105D(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GATGGGGATGCCGCTCTCCCT	0.592											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009yht.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(313-315)GGC>GAC		immunoglobulin superfamily, member 22							118.0	121.0	120.0					11																	18743146		1993	4152	6145	SO:0001583	missense	283284							g.chr11:18743146C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.314G>A	11.37:g.18743146C>T	ENSP00000421191:p.Gly105Asp		OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	IGSF22_uc001mpa.2_RNA	p.G105D	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			4	504	-			105			Ig-like 1.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.314G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145517	0.77888	.	.	ENSG00000179057	ENST00000513874	T	0.68765	-0.35	4.67	3.76	0.43208	.	0.000000	0.33144	U	0.005225	T	0.74099	0.3672	L	0.53780	1.695	0.23997	N	0.996229	D	0.89917	1.0	D	0.91635	0.999	T	0.63139	-0.6704	10	0.24483	T	0.36	.	10.3336	0.43837	0.0:0.9045:0.0:0.0955	.	105	D6RGV7	.	D	105	ENSP00000421191:G105D	ENSP00000322422:G105D	G	-	2	0	IGSF22	18699722	0.996000	0.38824	0.534000	0.28014	0.988000	0.76386	5.121000	0.64691	1.091000	0.41335	0.655000	0.94253	GGC		PASS	0.592	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		5	259	5	259	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47361293	47361293	+	Missense_Mutation	SNP	A	A	G	rs397515941		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:47361293A>G	ENST00000545968.1	-	21	2030	c.1976T>C	c.(1975-1977)aTt>aCt	p.I659T	MYBPC3_ENST00000256993.4_Missense_Mutation_p.I658T|MYBPC3_ENST00000399249.2_Missense_Mutation_p.I659T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	659	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I659T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TACAACCACAATGGTGTCTGG	0.552																																						uc001nfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1975-1977)ATT>ACT		myosin binding protein C, cardiac							97.0	100.0	99.0					11																	47361293		1975	4142	6117	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47361293A>G	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1976T>C	11.37:g.47361293A>G	ENSP00000442795:p.Ile659Thr					MYBPC3_uc010rhl.1_RNA	p.I659T	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	20	2031	-			658			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1976T>C	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976487	0.74360	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68181	-0.31;-0.31;-0.31	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76786	0.4036	L	0.48362	1.52	0.80722	D	1	P	0.46578	0.88	D	0.68353	0.957	T	0.79117	-0.1935	9	0.87932	D	0	.	14.6842	0.69037	1.0:0.0:0.0:0.0	.	658	Q14896	MYPC3_HUMAN	T	659;659;658	ENSP00000442795:I659T;ENSP00000382193:I659T;ENSP00000256993:I658T	ENSP00000256993:I658T	I	-	2	0	MYBPC3	47317869	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	8.761000	0.91691	2.054000	0.61138	0.459000	0.35465	ATT		PASS	0.552	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			18	43	18	43	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432897	55432897	+	Silent	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:55432897C>G	ENST00000314259.3	+	1	284	c.255C>G	c.(253-255)tcC>tcG	p.S85S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S85S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACACCCTCTCCAAGAGCACTA	0.488																																						uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(253-255)TCC>TCG		olfactory receptor, family 4, subfamily C,							186.0	163.0	171.0					11																	55432897		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432897C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.255C>G	11.37:g.55432897C>G						OR4C6_uc010rik.1_Silent_p.S85S	p.S85S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	520	+			85			Extracellular (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.255C>G	CCDS31506.1																																																																																				PASS	0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		59	204	59	204	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735331	55735331	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:55735331C>T	ENST00000312345.2	-	1	659	c.609G>A	c.(607-609)ctG>ctA	p.L203L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L203L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CAACAATCAACAGAAATGGCA	0.423																																						uc010rit.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(607-609)CTG>CTA		olfactory receptor, family 10, subfamily AG,							74.0	74.0	74.0					11																	55735331		2201	4296	6497	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735331C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.609G>A	11.37:g.55735331C>T							p.L203L	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	609	-	Esophageal squamous(21;0.0137)		203			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.609G>A	CCDS31514.1																																																																																				PASS	0.423	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		23	62	23	62	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077504	57077504	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:57077504A>C	ENST00000532437.1	-	5	2992	c.2681T>G	c.(2680-2682)cTg>cGg	p.L894R	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L894R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	894	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L894R(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATAAGCACCCAGAGAATCTCT	0.537																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2680-2682)CTG>CGG		tankyrase 1-binding protein 1							181.0	184.0	183.0					11																	57077504		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077504A>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2681T>G	11.37:g.57077504A>C	ENSP00000437271:p.Leu894Arg					TNKS1BP1_uc001njs.2_Missense_Mutation_p.L894R|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.L345R	p.L894R	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	2993	-		all_epithelial(135;0.21)	894			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2681T>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657435	0.29425	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36699	1.24;1.24	5.14	2.82	0.32997	.	1.159310	0.06639	N	0.760643	T	0.36193	0.0958	M	0.61703	1.905	0.09310	N	0.999998	B	0.24368	0.102	B	0.21917	0.037	T	0.32771	-0.9894	10	0.49607	T	0.09	-4.1708	6.2154	0.20651	0.8027:0.0:0.1973:0.0	.	894	Q9C0C2	TB182_HUMAN	R	894	ENSP00000350990:L894R;ENSP00000437271:L894R	ENSP00000350990:L894R	L	-	2	0	TNKS1BP1	56834080	0.002000	0.14202	0.106000	0.21319	0.699000	0.40488	1.475000	0.35409	0.923000	0.37045	0.379000	0.24179	CTG		PASS	0.537	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		108	315	108	315	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59283148	59283148	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:59283148A>T	ENST00000329328.3	+	1	763	c.763A>T	c.(763-765)Atc>Ttc	p.I255F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I255F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGTGCCCTGCATCTATGTCTA	0.547																																						uc010rkv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)ATC>TTC		olfactory receptor, family 4, subfamily D,							254.0	224.0	234.0					11																	59283148		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283148A>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.763A>T	11.37:g.59283148A>T	ENSP00000328563:p.Ile255Phe						p.I255F	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	763	+			255			Helical; Name=6; (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.763A>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.766965	0.69878	.	.	ENSG00000172742	ENST00000329328	T	0.38887	1.11	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.170089	0.27826	U	0.017684	T	0.53286	0.1787	L	0.52266	1.64	0.29586	N	0.848753	D	0.67145	0.996	D	0.72625	0.978	T	0.52442	-0.8575	10	0.87932	D	0	-16.0512	7.4981	0.27500	0.8994:0.0:0.1006:0.0	.	255	Q8NGE8	OR4D9_HUMAN	F	255	ENSP00000328563:I255F	ENSP00000328563:I255F	I	+	1	0	OR4D9	59039724	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.061000	0.11693	1.676000	0.50930	0.460000	0.39030	ATC		PASS	0.547	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		100	347	100	347	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63176158	63176158	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:63176158A>G	ENST00000279178.3	+	9	1657	c.1408A>G	c.(1408-1410)Atg>Gtg	p.M470V	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	470					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.M470V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGCAAGAGCTATGGGGATCAA	0.438																																						uc001nww.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(1408-1410)ATG>GTG		solute carrier family 22 (organic anion/cation							112.0	100.0	104.0					11																	63176158		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63176158A>G	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1408A>G	11.37:g.63176158A>G	ENSP00000279178:p.Met470Val					SLC22A9_uc001nwx.2_Intron	p.M470V	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			9	1676	+			470			Helical; (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1408A>G	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.508086	0.00984	.	.	ENSG00000149742	ENST00000279178	T	0.58210	0.35	3.15	-6.31	0.02001	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665589	0.13941	N	0.352207	T	0.22975	0.0555	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.41928	-0.9481	10	0.02654	T	1	.	2.1405	0.03774	0.5318:0.0973:0.1302:0.2406	.	470	Q8IVM8	S22A9_HUMAN	V	470	ENSP00000279178:M470V	ENSP00000279178:M470V	M	+	1	0	SLC22A9	62932734	0.000000	0.05858	0.000000	0.03702	0.494000	0.33585	-4.092000	0.00297	-1.273000	0.02424	0.172000	0.16884	ATG		PASS	0.438	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		37	85	37	85	---	---	---	---
SNX15	29907	broad.mit.edu	37	11	64806067	64806067	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:64806067C>G	ENST00000377244.3	+	7	818	c.688C>G	c.(688-690)Cat>Gat	p.H230D	SAC3D1_ENST00000531072.1_5'Flank|SNX15_ENST00000352068.5_Intron|SAC3D1_ENST00000398846.1_5'Flank|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	230					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.H230D(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CAGCCCCACCCATGTGGCTGA	0.632																																					Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)CAT>GAT		sorting nexin 15 isoform A							28.0	29.0	29.0					11																	64806067		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64806067C>G	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.688C>G	11.37:g.64806067C>G	ENSP00000366452:p.His230Asp					SNX15_uc009ypy.2_Missense_Mutation_p.H230D|SNX15_uc001ocj.2_Missense_Mutation_p.H230D|SNX15_uc001ock.2_Intron|SAC3D1_uc010rnv.1_5'Flank|SAC3D1_uc001ocm.2_5'Flank	p.H230D	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			10	1341	+			230					E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.688C>G	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	6.621	0.483081	0.12581	.	.	ENSG00000110025	ENST00000377244	T	0.34859	1.34	5.31	3.42	0.39159	.	0.778438	0.12703	N	0.446177	T	0.23492	0.0568	L	0.29908	0.895	0.80722	D	1	B;B	0.29716	0.255;0.255	B;B	0.24394	0.053;0.053	T	0.03910	-1.0993	10	0.37606	T	0.19	-26.8584	6.4609	0.21956	0.1805:0.7267:0.0:0.0929	.	230;230	E5KQS5;Q9NRS6	.;SNX15_HUMAN	D	230	ENSP00000366452:H230D	ENSP00000366452:H230D	H	+	1	0	SNX15	64562643	0.258000	0.24033	0.738000	0.30950	0.238000	0.25445	1.542000	0.36137	0.607000	0.29982	0.563000	0.77884	CAT		PASS	0.632	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			8	34	8	34	---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65812855	65812855	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:65812855G>T	ENST00000312006.4	-	2	313	c.32C>A	c.(31-33)gCc>gAc	p.A11D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A11D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	11					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.A11D(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						CATCTTGGTGGCCTGCTGCAG	0.637											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(31-33)GCC>GAC		galactose-3-O-sulfotransferase 3							37.0	34.0	35.0					11																	65812855		2201	4296	6497	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65812855G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.32C>A	11.37:g.65812855G>T	ENSP00000308591:p.Ala11Asp		OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	GAL3ST3_uc001ogw.2_Missense_Mutation_p.A11D	p.A11D	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			1	192	-			11			Cytoplasmic (Potential).		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.32C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223255	0.58668	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14893	2.47;2.47	5.36	2.38	0.29361	.	1.051080	0.07523	N	0.910864	T	0.07728	0.0194	N	0.08118	0	0.28817	N	0.897931	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.12430	T	0.62	-9.7902	4.8989	0.13764	0.1817:0.0:0.6502:0.1681	.	11	Q96A11	G3ST3_HUMAN	D	11	ENSP00000308591:A11D;ENSP00000434829:A11D	ENSP00000308591:A11D	A	-	2	0	GAL3ST3	65569431	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	0.403000	0.20982	0.618000	0.30179	0.561000	0.74099	GCC		PASS	0.637	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		6	46	6	46	---	---	---	---
CHORDC1	26973	broad.mit.edu	37	11	89944446	89944446	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:89944446C>A	ENST00000320585.6	-	5	779	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	CHORDC1_ENST00000529987.1_5'Flank|CHORDC1_ENST00000529726.1_5'Flank|CHORDC1_ENST00000457199.2_Missense_Mutation_p.A105S	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	124	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.A124S(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTTAGGGAGGCAGATATTTTT	0.279																																						uc001pdg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GCC>TCC		cysteine and histidine-rich domain-containing							108.0	118.0	115.0					11																	89944446		2201	4287	6488	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89944446C>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.370G>T	11.37:g.89944446C>A	ENSP00000319255:p.Ala124Ser					CHORDC1_uc009yvz.2_Missense_Mutation_p.A105S	p.A124S	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			5	780	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	124			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.370G>T	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984992	0.35036	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	T;T	0.42900	0.96;0.97	5.77	5.77	0.91146	.	0.155567	0.56097	D	0.000027	T	0.40670	0.1126	L	0.48642	1.525	0.80722	D	1	B;B	0.24483	0.036;0.104	B;B	0.21708	0.036;0.024	T	0.13575	-1.0504	9	.	.	.	-8.4103	20.0519	0.97629	0.0:1.0:0.0:0.0	.	105;124	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	S	124;105	ENSP00000319255:A124S;ENSP00000401080:A105S	.	A	-	1	0	CHORDC1	89584094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.469000	0.60169	2.746000	0.94184	0.580000	0.79431	GCC		PASS	0.279	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		28	196	28	196	---	---	---	---
HTR3B	9177	broad.mit.edu	37	11	113780125	113780126	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:113780125_113780126CC>AA	ENST00000260191.2	+	2	418_419	c.161_162CC>AA	c.(160-162)aCC>aAA	p.T54K	HTR3B_ENST00000537778.1_Missense_Mutation_p.T43K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	54					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.T54T(1)|p.T54N(1)|p.T54K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TACAACTGGACCAAGGCCACCA	0.446																																						uc001pok.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(160-162)ACC>AAC|c.(160-162)ACC>ACA		5-hydroxytryptamine (serotonin) receptor 3B																																				SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113780125C>A|g.chr11:113780126C>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	Exception_encountered	11.37:g.113780125_113780126delinsAA	ENSP00000260191:p.Thr54Lys					HTR3B_uc001pol.2_Missense_Mutation_p.T43N|HTR3B_uc001pol.2_Silent_p.T43T	p.T54N|p.T54T	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	2	228|229	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	54			Extracellular (Potential).		B0YJ23|Q0VJC3	Missense_Mutation|Silent	SNP	ENST00000260191.2	37	c.161C>A|c.162C>A	CCDS8364.1																																																																																				PASS	0.446	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		35|36	148|149	35	148	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123476080	123476080	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:123476080C>G	ENST00000529750.1	+	9	1115	c.788C>G	c.(787-789)tCc>tGc	p.S263C	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S263C|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S270C	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	263						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S263C(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GACAGCTCATCCAAGAGCAGC	0.517																																						uc001pyx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(787-789)TCC>TGC		GRAM domain containing 1B							120.0	129.0	126.0					11																	123476080		2103	4215	6318	SO:0001583	missense	57476					integral to membrane		g.chr11:123476080C>G	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.788C>G	11.37:g.123476080C>G	ENSP00000436500:p.Ser263Cys					GRAMD1B_uc001pyw.2_Missense_Mutation_p.S270C|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S223C|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S223C|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S259C|GRAMD1B_uc001pyy.2_5'Flank	p.S263C	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	9	1117	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	263					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.788C>G	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568094	0.86439	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.35605	1.71;1.7;1.7;1.71;1.3	5.09	5.09	0.68999	.	0.066041	0.64402	D	0.000006	T	0.53158	0.1779	L	0.48642	1.525	0.80722	D	1	B;D;D;D	0.59767	0.026;0.986;0.979;0.975	B;D;P;P	0.63877	0.021;0.919;0.707;0.832	T	0.54801	-0.8239	10	0.62326	D	0.03	.	18.5082	0.90905	0.0:1.0:0.0:0.0	.	223;270;263;270	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	C	270;270;263;263;223;259	ENSP00000402457:S270C;ENSP00000325628:S263C;ENSP00000436500:S263C;ENSP00000432987:S223C;ENSP00000434214:S259C	ENSP00000325628:S263C	S	+	2	0	GRAMD1B	122981290	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.424000	0.80242	2.376000	0.81061	0.305000	0.20034	TCC		PASS	0.517	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		7	80	7	80	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294351	124294351	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:124294351G>T	ENST00000356130.3	-	1	438	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V139V(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCAGAAAGCAGACCCTTGGGG	0.517																																						uc010sak.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(415-417)GTC>GTA		olfactory receptor, family 8, subfamily B,							80.0	71.0	74.0					11																	124294351		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294351G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.417C>A	11.37:g.124294351G>T							p.V139V	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	417	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	139			Helical; Name=4; (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.417C>A	CCDS31710.1																																																																																				PASS	0.517	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		30	104	30	104	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128786380	128786380	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr11:128786380C>T	ENST00000338350.4	+	4	1366	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	KCNJ5_ENST00000529694.1_Silent_p.T338T|KCNJ5_ENST00000533599.1_Silent_p.T338T			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	338					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.T338T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CAGTCCTCACCTTGGAAAAGG	0.537																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1012-1014)ACC>ACT		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						130.0	125.0	127.0					11																	128786380		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786380C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1014C>T	11.37:g.128786380C>T						KCNJ5_uc009zck.2_Silent_p.T338T|KCNJ5_uc001qew.2_Silent_p.T338T	p.T338T	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1328	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	338			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1014C>T	CCDS8479.1																																																																																				PASS	0.537	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		54	165	54	165	---	---	---	---
LDHB	3945	broad.mit.edu	37	12	21796970	21796970	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:21796970C>G	ENST00000396076.1	-	4	652	c.320G>C	c.(319-321)cGg>cCg	p.R107P	LDHB_ENST00000350669.1_Missense_Mutation_p.R107P	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	107			R -> W (in LDHB deficiency; inactive). {ECO:0000269|PubMed:8611651}.		cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.R107P(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CAGATTGAGCCGACTCTCCCC	0.403																																						uc001rfc.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(319-321)CGG>CCG		L-lactate dehydrogenase B	NADH(DB00157)						112.0	104.0	107.0					12																	21796970		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21796970C>G		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.320G>C	12.37:g.21796970C>G	ENSP00000379386:p.Arg107Pro					LDHB_uc001rfd.2_Missense_Mutation_p.R107P|LDHB_uc001rfe.2_Missense_Mutation_p.R107P	p.R107P	NM_002300	NP_002291	P07195	LDHB_HUMAN			3	338	-			107		R -> W (in GUA1; LDHB deficiency; inactive).		Substrate.		Missense_Mutation	SNP	ENST00000396076.1	37	c.320G>C	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301691	0.60195	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.62	4.73	0.59995	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.046814	0.85682	D	0.000000	D	0.97698	0.9245	H	0.95504	3.68	0.80722	D	1	B	0.16802	0.019	B	0.24974	0.057	D	0.96761	0.9561	10	0.87932	D	0	.	14.6357	0.68689	0.0:0.9299:0.0:0.0701	.	107	P07195	LDHB_HUMAN	P	107	ENSP00000379386:R107P;ENSP00000229319:R107P;ENSP00000379385:R107P;ENSP00000398015:R107P	ENSP00000229319:R107P	R	-	2	0	LDHB	21688237	1.000000	0.71417	0.843000	0.33291	0.993000	0.82548	7.763000	0.85283	1.380000	0.46344	0.514000	0.50259	CGG		PASS	0.403	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		33	99	33	99	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26217646	26217646	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:26217646C>T	ENST00000405154.2	+	3	518	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	RASSF8_ENST00000282884.9_Missense_Mutation_p.P107S|RASSF8_ENST00000381352.3_Missense_Mutation_p.P107S|RASSF8_ENST00000542865.1_Missense_Mutation_p.P107S|RASSF8_ENST00000541490.1_Missense_Mutation_p.P107S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	107					signal transduction (GO:0007165)			p.P107S(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GCAGAGTCTGCCCCCCTTAGC	0.478																																						uc001rgx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(319-321)CCC>TCC		Ras association (RalGDS/AF-6) domain family							77.0	81.0	80.0					12																	26217646		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26217646C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.319C>T	12.37:g.26217646C>T	ENSP00000384491:p.Pro107Ser					RASSF8_uc001rgy.2_Missense_Mutation_p.P107S|RASSF8_uc001rgz.2_Missense_Mutation_p.P107S|RASSF8_uc009zjd.1_Missense_Mutation_p.P107S|RASSF8_uc009zje.1_Missense_Mutation_p.P107S	p.P107S	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	540	+	Colorectal(261;0.0847)		107					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.319C>T	CCDS53765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440849|4.440849	0.83993|0.83993	.|.	.|.	ENSG00000123094|ENSG00000123094	ENST00000541934|ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413	.|T;T;T;T;T;T;T;T;T	.|0.55413	.|1.19;1.22;1.22;1.22;0.55;0.78;0.52;1.22;0.63	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.048612	.|0.85682	.|D	.|0.000000	.|T	.|0.70456	.|0.3226	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.411	.|D;B	.|0.68943	.|0.961;0.064	.|T	.|0.67142	.|-0.5745	.|10	.|0.30078	.|T	.|0.28	.|-30.0796	18.0861|18.0861	0.89457|0.89457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|107;107	.|Q8NHQ8-2;Q8NHQ8	.|.;RASF8_HUMAN	.|S	-1|107	.|ENSP00000370756:P107S;ENSP00000384491:P107S;ENSP00000439839:P107S;ENSP00000443096:P107S;ENSP00000442485:P107S;ENSP00000441294:P107S;ENSP00000445970:P107S;ENSP00000282884:P107S;ENSP00000443696:P107S	.|ENSP00000282884:P107S	.|P	+|+	.|1	.|0	RASSF8|RASSF8	26108913|26108913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.281000|7.281000	0.78621|0.78621	2.610000|2.610000	0.88304|0.88304	0.591000|0.591000	0.81541|0.81541	.|CCC		PASS	0.478	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		6	226	6	226	---	---	---	---
SLC11A2	4891	broad.mit.edu	37	12	51386099	51386099	+	Silent	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:51386099T>C	ENST00000262051.7	-	13	1308	c.1221A>G	c.(1219-1221)tcA>tcG	p.S407S	SLC11A2_ENST00000546743.1_Silent_p.S328S|SLC11A2_ENST00000262052.5_Silent_p.S407S|SLC11A2_ENST00000547688.1_Silent_p.S436S|SLC11A2_ENST00000541174.2_Silent_p.S407S|SLC11A2_ENST00000394904.3_Silent_p.S436S|SLC11A2_ENST00000545993.2_Silent_p.S403S|SLC11A2_ENST00000547198.1_Silent_p.S407S	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	407					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S407S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						GGGCAAAGCGTGACCACTTTA	0.473																																						uc001rxe.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1219-1221)TCA>TCG		solute carrier family 11 (proton-coupled							110.0	89.0	96.0					12																	51386099		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51386099T>C	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1221A>G	12.37:g.51386099T>C						SLC11A2_uc001rxd.3_Silent_p.S256S|SLC11A2_uc001rxc.3_Silent_p.S407S|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Silent_p.S20S|SLC11A2_uc010smx.1_Silent_p.S403S|SLC11A2_uc001rxh.1_Silent_p.S407S|SLC11A2_uc001rxj.1_Silent_p.S407S|SLC11A2_uc001rxi.2_Silent_p.S407S|SLC11A2_uc001rxk.1_Silent_p.S436S|SLC11A2_uc010smy.1_Silent_p.S370S	p.S407S	NM_000617	NP_000608	P49281	NRAM2_HUMAN			13	1318	-			407			Cytoplasmic (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.1221A>G	CCDS53792.1																																																																																				PASS	0.473	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			25	101	25	101	---	---	---	---
KRT71	112802	broad.mit.edu	37	12	52946483	52946483	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:52946483G>A	ENST00000267119.5	-	1	448	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	127	Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R127C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCCTGGGCACGCACTTTCTGG	0.592																																						uc001sao.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(379-381)CGT>TGT		keratin 71							117.0	110.0	113.0					12																	52946483		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52946483G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.379C>T	12.37:g.52946483G>A	ENSP00000267119:p.Arg127Cys						p.R127C	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	1	449	-			127			Head.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.379C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782474	0.49891	.	.	ENSG00000139648	ENST00000267119	T	0.78595	-1.19	4.82	2.85	0.33270	.	0.000000	0.44285	D	0.000475	T	0.73636	0.3612	M	0.66378	2.025	0.52099	D	0.999947	B	0.32302	0.363	B	0.27715	0.082	T	0.76353	-0.2990	10	0.62326	D	0.03	.	13.8171	0.63299	0.0:0.0:0.625:0.375	.	127	Q3SY84	K2C71_HUMAN	C	127	ENSP00000267119:R127C	ENSP00000267119:R127C	R	-	1	0	KRT71	51232750	0.957000	0.32711	0.986000	0.45419	0.993000	0.82548	1.317000	0.33631	1.150000	0.42419	0.561000	0.74099	CGT		PASS	0.592	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		26	123	26	123	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54118511	54118511	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:54118511C>A	ENST00000550804.1	-	3	237	c.177G>T	c.(175-177)cgG>cgT	p.R59R	CALCOCO1_ENST00000262059.4_Silent_p.R59R|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000548263.1_Silent_p.R59R|CALCOCO1_ENST00000430117.2_Silent_p.R59R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	59	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R59R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTGGTAATCCCGAACACAGG	0.498																																						uc001sef.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)CGG>CGT		coiled-coil transcriptional coactivator isoform							57.0	48.0	51.0					12																	54118511		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54118511C>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.177G>T	12.37:g.54118511C>A						CALCOCO1_uc010som.1_Silent_p.R59R|CALCOCO1_uc010son.1_Intron|CALCOCO1_uc001seh.2_Silent_p.R59R|CALCOCO1_uc009znd.2_Silent_p.R59R|CALCOCO1_uc001seg.2_5'UTR|CALCOCO1_uc010soo.1_Silent_p.R59R	p.R59R	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			3	321	-			59			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.177G>T	CCDS8864.1																																																																																				PASS	0.498	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		7	42	7	42	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57864530	57864530	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:57864530G>T	ENST00000228682.2	+	12	2098	c.2007G>T	c.(2005-2007)gtG>gtT	p.V669V	GLI1_ENST00000543426.1_Silent_p.V541V|GLI1_ENST00000546141.1_Silent_p.V628V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	669					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.V669V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACCCACTGTGGCAGGGGGAG	0.612																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(2005-2007)GTG>GTT		GLI family zinc finger 1 isoform 1							35.0	36.0	36.0					12																	57864530		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864530G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2007G>T	12.37:g.57864530G>T						GLI1_uc009zpq.2_Silent_p.V541V	p.V669V	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2085	+			669					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.2007G>T	CCDS8940.1																																																																																				PASS	0.612	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		26	57	26	57	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57921292	57921292	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:57921292C>T	ENST00000355673.3	+	8	2441	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	MBD6_ENST00000431731.2_Silent_p.P695P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	695	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P695P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTTCTTAGCCCTGTGTCCTGA	0.512																																						uc001soj.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2083-2085)CCC>CCT		methyl-CpG binding domain protein 6							78.0	83.0	81.0					12																	57921292		2203	4300	6503	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921292C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2085C>T	12.37:g.57921292C>T						MBD6_uc001sok.1_Silent_p.P562P|MBD6_uc001sol.1_RNA	p.P695P	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			8	2309	+			695			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.2085C>T	CCDS8944.1																																																																																				PASS	0.512	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			51	147	51	147	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78225350	78225350	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:78225350T>G	ENST00000397909.2	+	1	282	c.109T>G	c.(109-111)Tgt>Ggt	p.C37G	NAV3_ENST00000266692.7_Missense_Mutation_p.C37G|NAV3_ENST00000228327.6_Missense_Mutation_p.C37G|NAV3_ENST00000536525.2_Missense_Mutation_p.C37G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	37						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.C37G(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						GTCACAGCACTGTTCTTCAAG	0.473										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.(109-111)TGT>GGT		neuron navigator 3							129.0	121.0	123.0					12																	78225350		1902	4136	6038	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225350T>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.109T>G	12.37:g.78225350T>G	ENSP00000381007:p.Cys37Gly	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.C37G	p.C37G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			1	282	+			37					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.109T>G		.	.	.	.	.	.	.	.	.	.	T	10.09	1.255668	0.22965	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60548	0.18;1.69;1.7;1.69;1.59	5.54	4.38	0.52667	Calponin homology domain (1);	.	.	.	.	T	0.44705	0.1306	L	0.29908	0.895	0.26738	N	0.970444	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27157	-1.0082	9	0.23891	T	0.37	8.5977	11.859	0.52454	0.1311:0.0:0.0:0.8689	.	37;37	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	G	37	ENSP00000446628:C37G;ENSP00000446132:C37G;ENSP00000381007:C37G;ENSP00000228327:C37G;ENSP00000266692:C37G	ENSP00000228327:C37G	C	+	1	0	NAV3	76749481	0.870000	0.30015	0.003000	0.11579	0.799000	0.45148	4.588000	0.60999	0.914000	0.36822	0.533000	0.62120	TGT		PASS	0.473	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		67	227	67	227	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100887129	100887129	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:100887129C>A	ENST00000546380.1	+	3	322	c.28C>A	c.(28-30)Cat>Aat	p.H10N	NR1H4_ENST00000548884.1_Missense_Mutation_p.H10N|NR1H4_ENST00000392986.3_Missense_Mutation_p.H10N|NR1H4_ENST00000549996.1_Missense_Mutation_p.H10N			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	0					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.H10N(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TCTCATTGAACATTCCCATTT	0.289																																						uc001thq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(28-30)CAT>AAT		nuclear receptor subfamily 1, group H, member 4							53.0	51.0	51.0					12																	100887129		2197	4298	6495	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100887129C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000546380.1:c.28C>A	12.37:g.100887129C>A	ENSP00000446760:p.His10Asn					NR1H4_uc001thp.1_Missense_Mutation_p.H10N|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.H10N|NR1H4_uc010svk.1_Missense_Mutation_p.H10N	p.H10N	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			4	543	+			Error:Variant_position_missing_in_Q96RI1_after_alignment					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000546380.1	37	c.28C>A		.	.	.	.	.	.	.	.	.	.	C	3.067	-0.192054	0.06299	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000546380	D;D;D	0.92752	-2.87;-2.93;-3.1	5.44	5.44	0.79542	.	.	.	.	.	T	0.79885	0.4523	N	0.05280	-0.08	0.80722	D	1	B;B;B	0.29766	0.256;0.072;0.015	B;B;B	0.24848	0.056;0.043;0.015	T	0.77770	-0.2463	9	0.02654	T	1	.	14.6356	0.68686	0.0:1.0:0.0:0.0	.	10;10;10	F8VYG8;F1DAL1;B6ZGS9	.;.;.	N	10	ENSP00000448506:H10N;ENSP00000376712:H10N;ENSP00000448978:H10N	ENSP00000315442:H10N	H	+	1	0	NR1H4	99411260	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.796000	0.55507	2.832000	0.97577	0.655000	0.94253	CAT		PASS	0.289	NR1H4-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000409138.1	NM_005123		4	31	4	31	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169075	108169075	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:108169075T>C	ENST00000342331.4	+	1	914	c.83T>C	c.(82-84)cTg>cCg	p.L28P		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	27					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L27P(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGGGACCCTGCCCGGACTC	0.711																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)CTG>CCG		achaete-scute complex-like 4							35.0	40.0	38.0					12																	108169075		2199	4297	6496	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169075T>C	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.83T>C	12.37:g.108169075T>C	ENSP00000345420:p.Leu28Pro						p.L28P	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	914	+			27					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.83T>C	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	T	4.945	0.175494	0.09391	.	.	ENSG00000187855	ENST00000342331	D	0.96587	-4.06	4.11	-1.59	0.08453	.	1.089650	0.07276	N	0.870024	D	0.88894	0.6561	N	0.12182	0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.79264	-0.1875	10	0.34782	T	0.22	-22.6583	4.0864	0.09948	0.0:0.3163:0.4002:0.2835	.	27	Q6XD76	ASCL4_HUMAN	P	28	ENSP00000345420:L28P	ENSP00000345420:L28P	L	+	2	0	ASCL4	106693205	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.511000	0.06321	0.088000	0.17205	0.397000	0.26171	CTG		PASS	0.711	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		30	108	30	108	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109696835	109696835	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr12:109696835G>T	ENST00000338432.7	+	47	6537	c.6418G>T	c.(6418-6420)Gcc>Tcc	p.A2140S	ACACB_ENST00000543201.1_Missense_Mutation_p.A806S|ACACB_ENST00000377854.5_Missense_Mutation_p.A2070S|ACACB_ENST00000377848.3_Missense_Mutation_p.A2140S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2140	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A806S(1)|p.A2140S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACCGCCCAGGCCGTCAAGGA	0.562																																						uc001tob.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6418-6420)GCC>TCC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						163.0	163.0	163.0					12																	109696835		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696835G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6418G>T	12.37:g.109696835G>T	ENSP00000341044:p.Ala2140Ser					ACACB_uc001toc.2_Missense_Mutation_p.A2140S|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.A806S	p.A2140S	NM_001093	NP_001084	O00763	ACACB_HUMAN			47	6537	+			2140			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6418G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443797	0.96187	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.07	5.07	0.68467	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.155013	0.56097	D	0.000021	T	0.64450	0.2599	M	0.78456	2.415	0.80722	D	1	P	0.38922	0.651	P	0.61201	0.885	T	0.65043	-0.6264	10	0.72032	D	0.01	.	19.3488	0.94376	0.0:0.0:1.0:0.0	.	2140	O00763	ACACB_HUMAN	S	2140;2140;2070;1371;806	ENSP00000341044:A2140S;ENSP00000367079:A2140S;ENSP00000367085:A2070S;ENSP00000444075:A806S	ENSP00000341044:A2140S	A	+	1	0	ACACB	108181218	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.675000	0.98638	2.758000	0.94735	0.561000	0.74099	GCC		PASS	0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		65	280	65	280	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914497	23914497	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr13:23914497C>G	ENST00000382292.3	-	9	3791	c.3518G>C	c.(3517-3519)tGg>tCg	p.W1173S	SACS_ENST00000402364.1_Missense_Mutation_p.W423S|SACS_ENST00000382298.3_Missense_Mutation_p.W1173S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1173					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.W1173S(1)|p.W1026S(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)		ATCTCCTTTCCAGACCAAAGA	0.433																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3517-3519)TGG>TCG		sacsin							75.0	74.0	74.0					13																	23914497		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914497C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3518G>C	13.37:g.23914497C>G	ENSP00000371729:p.Trp1173Ser					SACS_uc001uoo.2_Missense_Mutation_p.W1026S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.W1173S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	4107	-		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)	1173					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3518G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710425	0.68730	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92348	-2.8;-3.02;-2.8	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.64997	1.995	0.80722	D	1	P	0.49447	0.924	B	0.43809	0.432	D	0.92559	0.6056	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1173	Q9NZJ4	SACS_HUMAN	S	1173;423;1173	ENSP00000371729:W1173S;ENSP00000385844:W423S;ENSP00000371735:W1173S	ENSP00000371729:W1173S	W	-	2	0	SACS	22812497	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	TGG		PASS	0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		15	81	15	81	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30091895	30091895	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr13:30091895T>C	ENST00000380752.5	-	10	1711	c.1325A>G	c.(1324-1326)cAg>cGg	p.Q442R	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	442					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.Q442R(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACTGGCCATCTGGTATACCAG	0.502																																						uc001uso.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)CAG>CGG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						97.0	96.0	96.0					13																	30091895		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091895T>C	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1325A>G	13.37:g.30091895T>C	ENSP00000370128:p.Gln442Arg						p.Q442R	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1712	-		Lung SC(185;0.0257)|Breast(139;0.238)	442			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1325A>G	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265845	0.80358	.	.	ENSG00000139514	ENST00000380752	D	0.85702	-2.02	5.56	5.56	0.83823	.	0.313884	0.34725	N	0.003736	T	0.81983	0.4938	N	0.14661	0.345	0.46458	D	0.999058	P	0.42296	0.775	P	0.51453	0.67	T	0.82665	-0.0345	10	0.38643	T	0.18	.	14.9032	0.70696	0.0:0.0:0.0:1.0	.	442	P30825	CTR1_HUMAN	R	442	ENSP00000370128:Q442R	ENSP00000370128:Q442R	Q	-	2	0	SLC7A1	28989895	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.300000	0.78841	2.133000	0.65898	0.533000	0.62120	CAG		PASS	0.502	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		15	135	15	135	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975752	44975752	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:44975752G>A	ENST00000340446.4	-	1	730	c.439C>T	c.(439-441)Cct>Tct	p.P147S	RP11-163M18.1_ENST00000556228.1_RNA|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	147						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P147S(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)		TTTTCTACAGGGGGGATGTTC	0.413																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(439-441)CCT>TCT		fibrous sheath CABYR binding protein							194.0	196.0	195.0					14																	44975752		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975752G>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.439C>T	14.37:g.44975752G>A	ENSP00000344579:p.Pro147Ser						p.P147S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	748	-			147					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.439C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	2.137	-0.397721	0.04899	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.20598	2.06	4.86	0.392	0.16288	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	B	0.25809	0.135	B	0.24541	0.054	T	0.37934	-0.9684	9	0.22706	T	0.39	5.817	5.7909	0.18359	0.2727:0.141:0.5863:0.0	.	147	Q5H9T9	FSCB_HUMAN	S	147	ENSP00000344579:P147S	ENSP00000344579:P147S	P	-	1	0	FSCB	44045502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.099000	0.15210	0.260000	0.21731	0.655000	0.94253	CCT		PASS	0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		97	276	97	276	---	---	---	---
ATG14	22863	broad.mit.edu	37	14	55848689	55848689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:55848689G>A	ENST00000247178.5	-	6	903	c.868C>T	c.(868-870)Cag>Tag	p.Q290*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	290					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)		p.Q290*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCAGGCCCCTGGGTTGTTTTC	0.443																																						uc001xbx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(868-870)CAG>TAG		Barkor							96.0	84.0	88.0					14																	55848689		2203	4300	6503	SO:0001587	stop_gained	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848689G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.868C>T	14.37:g.55848689G>A	ENSP00000247178:p.Gln290*					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.Q177*	p.Q290*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			6	904	-			290					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	37	c.868C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	37	6.167923	0.97343	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.62	5.62	0.85841	.	0.054508	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.2023	19.6482	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	290	.	ENSP00000247178:Q290X	Q	-	1	0	ATG14	54918442	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	7.921000	0.87530	2.636000	0.89361	0.555000	0.69702	CAG		PASS	0.443	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		45	90	45	90	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64430698	64430698	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:64430698A>T	ENST00000344113.4	+	10	1182	c.970A>T	c.(970-972)Acc>Tcc	p.T324S	SYNE2_ENST00000358025.3_Missense_Mutation_p.T324S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.T324S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	324					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T324S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGAATGATACCTACTTTAA	0.323																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(970-972)ACC>TCC		spectrin repeat containing, nuclear envelope 2							72.0	69.0	70.0					14																	64430698		1809	4064	5873	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64430698A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.970A>T	14.37:g.64430698A>T	ENSP00000341781:p.Thr324Ser					SYNE2_uc001xgl.2_Missense_Mutation_p.T324S	p.T324S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	10	1200	+			324			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.970A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	8.338	0.828107	0.16749	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.54279	0.96;0.96;0.58	5.04	2.51	0.30379	.	0.240408	0.28465	N	0.015253	T	0.43344	0.1243	M	0.65498	2.005	0.80722	D	1	B;B	0.21753	0.036;0.06	B;B	0.17722	0.008;0.019	T	0.16660	-1.0395	10	0.16420	T	0.52	.	6.0002	0.19517	0.6569:0.1572:0.0:0.1859	.	324;324	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	324	ENSP00000350719:T324S;ENSP00000341781:T324S;ENSP00000452570:T324S	ENSP00000261678:T324S	T	+	1	0	SYNE2	63500451	0.992000	0.36948	0.824000	0.32777	0.015000	0.08874	1.618000	0.36954	0.201000	0.20466	0.454000	0.30748	ACC		PASS	0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	23	7	23	---	---	---	---
FAM161B	145483	broad.mit.edu	37	14	74409247	74409247	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:74409247G>A	ENST00000534936.1	-	4	1202	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L	FAM161B_ENST00000286544.3_Missense_Mutation_p.P429L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	366								p.P429L(1)|p.P366L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ATTCACCCGAGGCTGGAATCT	0.552																																						uc001xpd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1096-1098)CCT>CTT		hypothetical protein LOC145483							140.0	139.0	140.0					14																	74409247		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74409247G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1097C>T	14.37:g.74409247G>A	ENSP00000445326:p.Pro366Leu						p.P366L	NM_152445	NP_689658					4	1203	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1097C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.158030	0.94686	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.25912	1.77;1.77	5.5	5.5	0.81552	.	0.151913	0.46758	D	0.000273	T	0.57359	0.2048	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59397	-0.7462	10	0.59425	D	0.04	-15.9975	19.5916	0.95514	0.0:0.0:1.0:0.0	.	366	Q96MY7	F161B_HUMAN	L	429;366	ENSP00000286544:P429L;ENSP00000445326:P366L	ENSP00000286544:P429L	P	-	2	0	FAM161B	73479000	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.739000	0.91574	2.861000	0.98227	0.655000	0.94253	CCT		PASS	0.552	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		41	226	41	226	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412026	105412026	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:105412026G>A	ENST00000333244.5	-	7	9881	c.9762C>T	c.(9760-9762)gaC>gaT	p.D3254D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3254						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3254D(1)|p.D3254E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.607																																						uc010axc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(9760-9762)GAC>GAT		AHNAK nucleoprotein 2							113.0	82.0	92.0					14																	105412026		1860	4069	5929	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412026G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9762C>T	14.37:g.105412026G>A						AHNAK2_uc001ypx.2_Silent_p.D3154D	p.D3254D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9882	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3254					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9762C>T	CCDS45177.1																																																																																				PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	139	9	139	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412521	105412521	+	Silent	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr14:105412521G>A	ENST00000333244.5	-	7	9386	c.9267C>T	c.(9265-9267)gaC>gaT	p.D3089D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3089						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3089D(1)|p.D3089E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.612																																						uc010axc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(9265-9267)GAC>GAT		AHNAK nucleoprotein 2							87.0	91.0	90.0					14																	105412521		1859	4080	5939	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412521G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9267C>T	14.37:g.105412521G>A						AHNAK2_uc001ypx.2_Silent_p.D2989D	p.D3089D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9387	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3089					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9267C>T	CCDS45177.1																																																																																				PASS	0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	68	5	68	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33922213	33922213	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:33922213T>A	ENST00000389232.4	+	22	2822	c.2752T>A	c.(2752-2754)Tat>Aat	p.Y918N	RYR3_ENST00000415757.3_Missense_Mutation_p.Y918N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	918	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.Y918N(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)		TGAGAAGAACTATAACCTGCA	0.343																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2752-2754)TAT>AAT		ryanodine receptor 3							91.0	83.0	85.0					15																	33922213		1840	4091	5931	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33922213T>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.2752T>A	15.37:g.33922213T>A	ENSP00000373884:p.Tyr918Asn					RYR3_uc010bar.2_Missense_Mutation_p.Y918N	p.Y918N	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)	22	2822	+		all_lung(180;7.18e-09)	918			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2752T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437136	0.83885	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91351	-2.83;-2.83	5.35	5.35	0.76521	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.871	D	0.95025	0.8164	10	0.52906	T	0.07	.	15.503	0.75716	0.0:0.0:0.0:1.0	.	918;918	Q15413-2;Q15413	.;RYR3_HUMAN	N	918	ENSP00000373884:Y918N;ENSP00000399610:Y918N	ENSP00000354735:Y918N	Y	+	1	0	RYR3	31709505	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.433000	0.80362	2.236000	0.73375	0.528000	0.53228	TAT		PASS	0.343	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	23	11	23	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51973965	51973965	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:51973965G>C	ENST00000220478.3	+	1	416	c.13G>C	c.(13-15)Ggg>Cgg	p.G5R	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	5					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.G5R(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GGGGTTCCTCGGGACCGGCAC	0.522																																						uc002abh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)GGG>CGG		secretogranin III isoform 1 precursor							100.0	85.0	90.0					15																	51973965		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51973965G>C	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.13G>C	15.37:g.51973965G>C	ENSP00000220478:p.Gly5Arg					SCG3_uc010ufz.1_5'UTR	p.G5R	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	1	421	+			5					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.13G>C	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	7.188	0.590959	0.13812	.	.	ENSG00000104112	ENST00000220478	T	0.21031	2.03	4.85	2.51	0.30379	.	0.800252	0.12027	N	0.506352	T	0.07683	0.0193	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23511	-1.0186	10	0.15499	T	0.54	0.0446	4.8676	0.13616	0.0:0.108:0.4164:0.4756	.	5	Q8WXD2	SCG3_HUMAN	R	5	ENSP00000220478:G5R	ENSP00000220478:G5R	G	+	1	0	SCG3	49761257	0.998000	0.40836	0.999000	0.59377	0.557000	0.35523	0.587000	0.23909	0.894000	0.36317	-0.467000	0.05162	GGG		PASS	0.522	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		14	56	14	56	---	---	---	---
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000414170.3_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					uc010bga.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)TGC>TGT		lipase C precursor							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_uc010bfz.1_Silent_p.C75C|LIPC_uc002afa.1_Silent_p.C75C|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.1_Silent_p.C75C	p.C75C	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	833	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				PASS	0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			5	228	5	228	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65759121	65759121	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:65759121T>A	ENST00000341861.5	-	14	3348	c.1768A>T	c.(1768-1770)Aac>Tac	p.N590Y	DPP8_ENST00000321118.7_Missense_Mutation_p.N590Y|DPP8_ENST00000339244.5_Missense_Mutation_p.N417Y|DPP8_ENST00000559233.1_Missense_Mutation_p.N590Y|DPP8_ENST00000358939.4_Missense_Mutation_p.N574Y|DPP8_ENST00000321147.6_Missense_Mutation_p.N590Y|DPP8_ENST00000300141.6_Missense_Mutation_p.N574Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	590					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.N574Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTCTGGTTACTATACTTA	0.383																																						uc002aov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1768-1770)AAC>TAC		dipeptidyl peptidase 8 isoform 1							91.0	89.0	90.0					15																	65759121		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759121T>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1768A>T	15.37:g.65759121T>A	ENSP00000339208:p.Asn590Tyr					DPP8_uc002aow.2_Missense_Mutation_p.N590Y|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.N574Y|DPP8_uc002aoy.2_Missense_Mutation_p.N590Y|DPP8_uc002aoz.2_Missense_Mutation_p.N574Y|DPP8_uc010bhj.2_Missense_Mutation_p.N590Y|DPP8_uc002apa.2_Missense_Mutation_p.N487Y|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.N159Y	p.N590Y	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			14	3346	-			590					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1768A>T	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642261	0.67244	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.061993	0.64402	D	0.000003	T	0.54743	0.1877	M	0.67397	2.05	0.50467	D	0.999871	D;D;D;D;D	0.76494	0.997;0.999;0.987;0.991;0.997	D;D;P;D;D	0.72982	0.979;0.94;0.838;0.959;0.976	T	0.57802	-0.7748	10	0.87932	D	0	-18.2856	16.1614	0.81721	0.0:0.0:0.0:1.0	.	417;574;574;590;590	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	Y	590;574;574;590;590;417;590	ENSP00000339208:N590Y;ENSP00000351817:N574Y;ENSP00000300141:N574Y;ENSP00000318111:N590Y;ENSP00000316373:N590Y;ENSP00000341230:N417Y;ENSP00000379013:N590Y	ENSP00000300141:N574Y	N	-	1	0	DPP8	63546174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.584000	0.82572	2.218000	0.71995	0.473000	0.43528	AAC		PASS	0.383	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		27	96	27	96	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70961109	70961109	+	Silent	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:70961109T>C	ENST00000322954.6	-	16	2099	c.1914A>G	c.(1912-1914)tcA>tcG	p.S638S	UACA_ENST00000539319.1_Silent_p.S529S|UACA_ENST00000560441.1_Silent_p.S623S|UACA_ENST00000379983.2_Silent_p.S625S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	638					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.S638S(1)|p.S625S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CATTTGATAATGAGCTCTTCA	0.358																																						uc002asr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1912-1914)TCA>TCG		uveal autoantigen with coiled-coil domains and							73.0	73.0	73.0					15																	70961109		2199	4296	6495	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70961109T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1914A>G	15.37:g.70961109T>C						UACA_uc010uke.1_Silent_p.S529S|UACA_uc002asq.2_Silent_p.S625S|UACA_uc010bin.1_Silent_p.S613S	p.S638S	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2018	-			638			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.1914A>G	CCDS10235.1																																																																																				PASS	0.358	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			47	164	47	164	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86124328	86124328	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:86124328A>C	ENST00000394518.2	+	7	3124	c.3029A>C	c.(3028-3030)cAa>cCa	p.Q1010P	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q1010P|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1010					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.Q1010P(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						CTGCTGACTCAAGGTGGGGCT	0.562																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(3028-3030)CAA>CCA		A-kinase anchor protein 13 isoform 2							47.0	49.0	49.0					15																	86124328		2202	4299	6501	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.chr15:86124328A>C	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		ENST00000394518.2:c.3029A>C	15.37:g.86124328A>C	ENSP00000378026:p.Gln1010Pro					AKAP13_uc002blt.1_Missense_Mutation_p.Q1010P|AKAP13_uc002blu.1_Missense_Mutation_p.Q1010P|AKAP13_uc010bne.1_5'Flank	p.Q1010P	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	3199	+			1010					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3029A>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	9.634	1.137212	0.21123	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13901	2.55;2.55	5.2	2.79	0.32731	.	.	.	.	.	T	0.07188	0.0182	N	0.14661	0.345	0.43583	D	0.995921	B;B	0.33477	0.289;0.413	B;B	0.31495	0.062;0.131	T	0.33137	-0.9880	9	0.62326	D	0.03	.	5.2418	0.15475	0.7259:0.1796:0.0945:0.0	.	1010;1010	Q12802;Q12802-2	AKP13_HUMAN;.	P	1010;1010;1009;1009	ENSP00000354718:Q1010P;ENSP00000378026:Q1010P	ENSP00000354718:Q1010P	Q	+	2	0	AKAP13	83925332	0.990000	0.36364	0.819000	0.32651	0.286000	0.27126	0.877000	0.28106	0.263000	0.21812	0.533000	0.62120	CAA		PASS	0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		35	109	35	109	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91824968	91824968	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:91824968A>T	ENST00000394232.1	+	10	1854	c.1384A>T	c.(1384-1386)Atg>Ttg	p.M462L	SV2B_ENST00000545111.2_Missense_Mutation_p.M311L|SV2B_ENST00000330276.4_Missense_Mutation_p.M462L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	462					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.M462L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTCACAAGAATGTACTTTAA	0.373																																						uc002bqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1384-1386)ATG>TTG		synaptic vesicle protein 2B homolog							107.0	103.0	105.0					15																	91824968		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91824968A>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1384A>T	15.37:g.91824968A>T	ENSP00000377779:p.Met462Leu					SV2B_uc010uqv.1_Missense_Mutation_p.M311L|SV2B_uc002bqu.3_RNA	p.M462L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		9	1775	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		462			Extracellular (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1384A>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	7.724	0.697888	0.15106	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.39229	1.09;1.09;1.09	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.035889	0.85682	D	0.000000	T	0.22781	0.0550	N	0.05510	-0.035	0.46317	D	0.99898	B	0.17852	0.024	B	0.18871	0.023	T	0.11494	-1.0585	10	0.07325	T	0.83	-31.5248	14.8833	0.70550	1.0:0.0:0.0:0.0	.	462	Q7L1I2	SV2B_HUMAN	L	311;462;462	ENSP00000443243:M311L;ENSP00000377779:M462L;ENSP00000332818:M462L	ENSP00000332818:M462L	M	+	1	0	SV2B	89625972	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.529000	0.53532	2.196000	0.70406	0.482000	0.46254	ATG		PASS	0.373	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		27	159	27	159	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346591	102346591	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr15:102346591G>T	ENST00000328882.4	+	1	690	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V223V(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTATTTTGGTGACTGTTCAGA	0.363																																						uc010utr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)GTG>GTT		olfactory receptor, family 4, subfamily F,							132.0	134.0	133.0					15																	102346591		2202	4300	6502	SO:0001819	synonymous_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346591G>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.669G>T	15.37:g.102346591G>T							p.V223V	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	669	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		223			Cytoplasmic (Potential).		B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	37	c.669G>T	CCDS32341.1																																																																																				PASS	0.363	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			71	291	71	291	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24902389	24902389	+	Silent	SNP	G	G	A	rs376534051		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr16:24902389G>A	ENST00000347898.3	+	9	1486	c.864G>A	c.(862-864)acG>acA	p.T288T	SLC5A11_ENST00000545376.1_Silent_p.T218T|SLC5A11_ENST00000539472.1_Silent_p.T224T|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Silent_p.T253T|SLC5A11_ENST00000567758.1_Silent_p.T253T|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Silent_p.T224T|SLC5A11_ENST00000568579.1_Silent_p.T218T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.T288T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ACTGGTGCACGGATCAGGTAC	0.507																																						uc002dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(862-864)ACG>ACA		solute carrier family 5 (sodium/glucose		G		0,4394		0,0,2197	100.0	93.0	96.0		864	-10.6	0.8	16		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC5A11	NM_052944.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		288/676	24902389	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902389G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.864G>A	16.37:g.24902389G>A						SLC5A11_uc002dms.2_Silent_p.T224T|SLC5A11_uc010vcd.1_Silent_p.T253T|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Silent_p.T218T|SLC5A11_uc010bxt.2_Silent_p.T224T	p.T288T	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	1096	+			288			Helical; (Potential).			Silent	SNP	ENST00000347898.3	37	c.864G>A	CCDS10625.1																																																																																				PASS	0.507	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		46	188	46	188	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48134806	48134806	+	Silent	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr16:48134806G>C	ENST00000311303.3	-	21	3360	c.3015C>G	c.(3013-3015)ggC>ggG	p.G1005G	ABCC12_ENST00000448542.1_Missense_Mutation_p.Q927E|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1005	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G1005G(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTCCTTCTTGCCATAGGCGT	0.612																																						uc002efc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3013-3015)GGC>GGG		ATP-binding cassette protein C12							114.0	99.0	104.0					16																	48134806		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48134806G>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3015C>G	16.37:g.48134806G>C						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.G1005G	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			21	3361	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1005			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3015C>G	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739127	0.30774	.	.	ENSG00000140798	ENST00000448542	D	0.92149	-2.98	5.39	1.98	0.26296	.	.	.	.	.	D	0.89849	0.6834	.	.	.	0.32394	N	0.552803	.	.	.	.	.	.	D	0.88235	0.2906	6	0.87932	D	0	.	2.6817	0.05095	0.2628:0.0:0.5115:0.2257	.	.	.	.	E	927	ENSP00000401855:Q927E	ENSP00000401855:Q927E	Q	-	1	0	ABCC12	46692307	0.009000	0.17119	0.008000	0.14137	0.051000	0.14879	0.070000	0.14573	0.627000	0.30340	0.561000	0.74099	CAA		PASS	0.612	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		21	42	21	42	---	---	---	---
IST1	9798	broad.mit.edu	37	16	71958710	71958710	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr16:71958710A>T	ENST00000329908.8	+	9	949	c.887A>T	c.(886-888)cAc>cTc	p.H296L	IST1_ENST00000544564.1_Silent_p.A297A|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000538850.1_Silent_p.A149A|IST1_ENST00000606369.1_Silent_p.A149A|IST1_ENST00000378798.5_Silent_p.A266A|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000535424.1_Silent_p.A310A|IST1_ENST00000541571.2_Silent_p.A297A|IST1_ENST00000378799.6_Silent_p.A297A	NM_001270975.1|NM_014761.3	NP_001257904.1|NP_055576.2	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	0	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.H296L(1)									TCTCTTCTGCACAGATTGTTG	0.418																																						uc002fbj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(928-930)GCA>GCT		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							125.0	111.0	115.0					16																	71958710		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71958710A>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000329908.8:c.887A>T	16.37:g.71958710A>T	ENSP00000330408:p.His296Leu					KIAA0174_uc010cgh.1_Silent_p.A310A|KIAA0174_uc002fbk.1_Missense_Mutation_p.H296L|KIAA0174_uc002fbm.1_Silent_p.A297A|KIAA0174_uc002fbl.1_Silent_p.A266A|KIAA0174_uc002fbn.1_Silent_p.A149A|KIAA0174_uc010cgi.1_Silent_p.A68A|KIAA0174_uc010cgj.1_Intron|KIAA0174_uc010vml.1_RNA	p.A310A			P53990	IST1_HUMAN			11	1213	+			295			Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000329908.8	37	c.930A>T	CCDS10905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.82|11.82	1.753098|1.753098	0.31046|0.31046	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000329908|ENST00000541848	.|.	.|.	.|.	5.82|5.82	4.71|4.71	0.59529|0.59529	.|.	.|.	.|.	.|.	.|.	T|T	0.61578|0.61578	0.2358|0.2358	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.14023|.	0.01|.	T|T	0.58532|0.58532	-0.7620|-0.7620	7|4	0.26408|.	T|.	0.33|.	-0.5906|-0.5906	10.0097|10.0097	0.41979|0.41979	0.8493:0.0:0.0:0.1506|0.8493:0.0:0.0:0.1506	.|.	296|.	P53990-3|.	.|.	L|S	296|152	.|.	ENSP00000330408:H296L|.	H|T	+|+	2|1	0|0	KIAA0174|KIAA0174	70516211|70516211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	0.881000|0.881000	0.28173|0.28173	1.003000|1.003000	0.39130|0.39130	0.519000|0.519000	0.50382|0.50382	CAC|ACA		PASS	0.418	IST1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269006.1	NM_014761		26	82	26	82	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	G	rs28934576		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:7577120C>G	ENST00000269305.4	-	8	1007	c.818G>C	c.(817-819)cGt>cCt	p.R273P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273P|TP53_ENST00000455263.2_Missense_Mutation_p.R273P|TP53_ENST00000420246.2_Missense_Mutation_p.R273P	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>G	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.818G>C	17.37:g.7577120C>G	ENSP00000269305:p.Arg273Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141P|TP53_uc010cng.1_Missense_Mutation_p.R141P|TP53_uc002gii.1_Missense_Mutation_p.R141P|TP53_uc010cnh.1_Missense_Mutation_p.R273P|TP53_uc010cni.1_Missense_Mutation_p.R273P|TP53_uc002gij.2_Missense_Mutation_p.R273P	p.R273P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|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.818G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207909	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99873	0.9940	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.997	D	0.96359	0.9264	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	273;273;273;273;273;262;141	ENSP00000352610:R273P;ENSP00000269305:R273P;ENSP00000398846:R273P;ENSP00000391127:R273P;ENSP00000391478:R273P;ENSP00000425104:R141P	ENSP00000269305:R273P	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	24	39	24	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8141724	8141724	+	Missense_Mutation	SNP	C	C	T	rs532695142		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:8141724C>T	ENST00000315684.8	-	3	428	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	141					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.V141I(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGCTCAGGACGCCAGTGTTA	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22021	0.0		0.0	False		,,,				2504	0.0					uc002gkq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GTC>ATC		alpha accessory factor 132							147.0	146.0	147.0					17																	8141724		2036	4200	6236	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141724C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.421G>A	17.37:g.8141724C>T	ENSP00000313759:p.Val141Ile					C17orf68_uc010cnv.2_RNA	p.V141I	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			3	480	-			141					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.421G>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	2.847	-0.239142	0.05944	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82619	-1.63;-1.63	5.67	-6.27	0.02026	.	1.721060	0.02689	N	0.110405	T	0.62097	0.2400	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54860	-0.8230	10	0.21014	T	0.42	0.0	10.3244	0.43785	0.0:0.5746:0.1302:0.2952	.	141	Q2NKJ3	CTC1_HUMAN	I	141	ENSP00000313759:V141I;ENSP00000396018:V141I	ENSP00000313759:V141I	V	-	1	0	CTC1	8082449	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-4.800000	0.00184	-1.259000	0.02468	-1.069000	0.02264	GTC		PASS	0.488	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		108	134	108	134	---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16855826	16855827	+	Missense_Mutation	DNP	CC	CC	AA	rs200936104		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:16855826_16855827CC>AA	ENST00000261652.2	-	2	144_145	c.132_133GG>TT	c.(130-135)ctGGgt>ctTTgt	p.G45C	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G45C|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000437538.2_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	45					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G45C(2)|p.L44L(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ATGCAGGTACCCAGCAGAGGAT	0.604									IgA Deficiency, Selective																													uc002gqs.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	kidney(2)	2						c.(133-135)GGT>TGT|c.(130-132)CTG>CTT		tumor necrosis factor receptor 13B																																				SO:0001583	missense	23495	IgA_Deficiency_Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16855826C>A|g.chr17:16855827C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.132_133delinsAA	17.37:g.16855826_16855827delinsAA	ENSP00000261652:p.Gly45Cys					TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.G45C|TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron|TNFRSF13B_uc010vwu.1_Silent_p.L44L	p.G45C|p.L44L	NM_012452	NP_036584	O14836	TR13B_HUMAN			2	146|145	-			45|44			TNFR-Cys 1.|Extracellular (Potential).		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation|Silent	SNP	ENST00000261652.2	37	c.133G>T|c.132G>T	CCDS11181.1																																																																																				PASS	0.604	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			41	41	41	41	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34186068	34186068	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:34186068G>C	ENST00000311880.2	-	9	911	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q215E	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		255					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q255E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCCCGACTTGAGTCCTCTGT	0.517																																						uc002hke.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(763-765)CAA>GAA		hypothetical protein LOC256957							71.0	58.0	63.0					17																	34186068		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34186068G>C																												ENST00000311880.2:c.763C>G	17.37:g.34186068G>C	ENSP00000309560:p.Gln255Glu					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q215E|C17orf66_uc010wcm.1_Missense_Mutation_p.Q221E	p.Q255E	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	9	912	-		Ovarian(249;0.17)	255					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.763C>G	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	5.104	0.204837	0.09704	.	.	ENSG00000172653	ENST00000311880	T	0.48522	0.81	3.61	-0.877	0.10621	Armadillo-like helical (1);Armadillo-type fold (1);	1.135420	0.06827	N	0.793316	T	0.26666	0.0652	N	0.17082	0.46	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.21143	-1.0254	10	0.12766	T	0.61	.	6.186	0.20498	0.0:0.3344:0.3238:0.3417	.	221;215;255	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	E	255	ENSP00000309560:Q255E	ENSP00000309560:Q255E	Q	-	1	0	C17orf66	31210181	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	0.142000	0.16096	-0.090000	0.12462	0.305000	0.20034	CAA		PASS	0.517	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			55	63	55	63	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38192031	38192031	+	Silent	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:38192031C>T	ENST00000394128.2	-	5	351	c.270G>A	c.(268-270)cgG>cgA	p.R90R	MED24_ENST00000501516.3_Silent_p.R90R|MED24_ENST00000394127.2_Silent_p.R77R|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Silent_p.R77R|MED24_ENST00000394126.1_Silent_p.R115R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	90					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R90R(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACAGGTCCCGAGAAAAGT	0.532																																						uc002htt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(268-270)CGG>CGA		mediator complex subunit 24 isoform 1							102.0	81.0	88.0					17																	38192031		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38192031C>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.270G>A	17.37:g.38192031C>T						MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.R115R|MED24_uc002htu.2_Silent_p.R77R|MED24_uc010cwn.2_Silent_p.R77R|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Silent_p.R40R|MED24_uc010wew.1_Silent_p.R19R|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Silent_p.R40R|MED24_uc010wfb.1_Silent_p.R102R|MED24_uc010wfc.1_Silent_p.R27R	p.R90R	NM_014815	NP_055630	O75448	MED24_HUMAN			5	583	-	Colorectal(19;0.000442)		90					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.270G>A	CCDS11359.1																																																																																				PASS	0.532	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		34	48	34	48	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72363714	72363714	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr17:72363714G>T	ENST00000335666.4	+	1	118	c.70G>T	c.(70-72)Gct>Tct	p.A24S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	24						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A24S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGACATCACTGCTGTCCTGGG	0.493																																						uc010wqy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(70-72)GCT>TCT		G protein-coupled receptor 142							116.0	99.0	105.0					17																	72363714		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363714G>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.70G>T	17.37:g.72363714G>T	ENSP00000335158:p.Ala24Ser					GPR142_uc010wqx.1_5'UTR	p.A24S	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			1	70	+			24			Extracellular (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.70G>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073802	0.55646	.	.	ENSG00000257008	ENST00000335666	T	0.71103	-0.54	3.04	0.736	0.18307	.	.	.	.	.	T	0.46132	0.1377	N	0.08118	0	0.24893	N	0.992158	B	0.33528	0.416	B	0.26614	0.071	T	0.34229	-0.9837	9	0.87932	D	0	.	8.9393	0.35720	0.0:0.0:0.6301:0.3699	.	24	Q7Z601	GP142_HUMAN	S	24	ENSP00000335158:A24S	ENSP00000335158:A24S	A	+	1	0	GPR142	69875309	1.000000	0.71417	0.000000	0.03702	0.080000	0.17528	5.306000	0.65756	0.081000	0.16988	0.650000	0.86243	GCT		PASS	0.493	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		57	79	57	79	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7231835	7231836	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:7231835_7231836CC>AA	ENST00000383467.2	+	1	713_714	c.699_700CC>AA	c.(697-702)agCCtg>agAAtg	p.233_234SL>RM		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	233								p.S233_L234>RM(1)|p.S233R(1)|p.L234M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGTCACCAGCCTGGAGCTGCT	0.574																																						uc010wzk.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|liver(1)	2						c.(697-699)AGC>AGA|c.(700-702)CTG>ATG		leucine rich repeat containing 30																																				SO:0001583	missense	339291							g.chr18:7231835C>A|g.chr18:7231836C>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		Exception_encountered	18.37:g.7231835_7231836delinsAA	ENSP00000372959:p.S233_L234delinsRM						p.S233R|p.L234M	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	699|700	+			233|234			LRR 8.			Missense_Mutation	SNP	ENST00000383467.2	37	c.699C>A|c.700C>A	CCDS42409.1																																																																																				PASS	0.574	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		46|45	92|93	45	92	---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9535926	9535926	+	Silent	SNP	G	G	A	rs537354453		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:9535926G>A	ENST00000019317.4	+	10	2182	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	RALBP1_ENST00000383432.3_Silent_p.T653T			Q15311	RBP1_HUMAN	ralA binding protein 1	653					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.T653T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGAAGGAGACGTCCATCTGAG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17176	0.0		0.0	False		,,,				2504	0.0					uc002kob.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1957-1959)ACG>ACA		ralA binding protein 1							19.0	22.0	21.0					18																	9535926		2196	4291	6487	SO:0001819	synonymous_variant	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9535926G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1959G>A	18.37:g.9535926G>A						RALBP1_uc002koc.2_Silent_p.T653T	p.T653T	NM_006788	NP_006779	Q15311	RBP1_HUMAN			10	2182	+			653					D3DUI0	Silent	SNP	ENST00000019317.4	37	c.1959G>A	CCDS11845.1																																																																																				PASS	0.622	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		9	17	9	17	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50278510	50278510	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:50278510G>T	ENST00000442544.2	+	2	794	c.178G>T	c.(178-180)Gac>Tac	p.D60Y	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	60	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.D60Y(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTCCTCCTCGACTGCTCCGC	0.507																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(178-180)GAC>TAC		netrin receptor DCC precursor							69.0	68.0	68.0					18																	50278510		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278510G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.178G>T	18.37:g.50278510G>T	ENSP00000389140:p.Asp60Tyr					DCC_uc010xdr.1_5'UTR	p.D60Y	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	765	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	60			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.178G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601023	0.46423	.	.	ENSG00000187323	ENST00000442544	T	0.12361	2.69	5.66	4.54	0.55810	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186793	0.45606	D	0.000346	T	0.24044	0.0582	M	0.62209	1.925	0.80722	D	1	P	0.51933	0.949	P	0.53988	0.739	T	0.00865	-1.1535	10	0.48119	T	0.1	.	8.7148	0.34405	0.9039:0.0:0.0961:0.0	.	60	P43146	DCC_HUMAN	Y	60	ENSP00000389140:D60Y	ENSP00000389140:D60Y	D	+	1	0	DCC	48532508	0.477000	0.25909	0.858000	0.33744	0.153000	0.21895	1.086000	0.30853	1.020000	0.39573	0.655000	0.94253	GAC		PASS	0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		3	87	3	87	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61232707	61232707	+	Silent	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:61232707G>C	ENST00000269491.1	+	6	675	c.675G>C	c.(673-675)acG>acC	p.T225T	SERPINB12_ENST00000382768.1_Silent_p.T245T	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGATGATGACGCAAAAAGGCC	0.488																																						uc010xen.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)ACG>ACC		serine (or cysteine) proteinase inhibitor, clade							147.0	132.0	137.0					18																	61232707		2203	4300	6503	SO:0001819	synonymous_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232707G>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.675G>C	18.37:g.61232707G>C						SERPINB12_uc010xeo.1_Silent_p.T245T	p.T225T	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			6	675	+			225					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.675G>C	CCDS11984.1																																																																																				PASS	0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		47	161	47	161	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66344201	66344201	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:66344201G>A	ENST00000299608.2	-	16	1650	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	445					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.P445L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TACATCCTTGGGCTCCTGCAC	0.363																																						uc002lkf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1333-1335)CCC>CTC		thioredoxin domain containing 10 precursor							143.0	118.0	126.0					18																	66344201		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344201G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1334C>T	18.37:g.66344201G>A	ENSP00000299608:p.Pro445Leu					TMX3_uc010xez.1_Missense_Mutation_p.P304L	p.P445L	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			16	1469	-			445			Cytoplasmic (Potential).		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.1334C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612814	0.46631	.	.	ENSG00000166479	ENST00000299608	T	0.10573	2.86	5.61	5.61	0.85477	.	0.269740	0.34879	N	0.003612	T	0.10937	0.0267	L	0.51422	1.61	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	T	0.07347	-1.0777	10	0.62326	D	0.03	.	6.9819	0.24708	0.0898:0.0:0.7355:0.1747	.	445	Q96JJ7	TMX3_HUMAN	L	445	ENSP00000299608:P445L	ENSP00000299608:P445L	P	-	2	0	TMX3	64495181	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	4.648000	0.61425	2.631000	0.89168	0.650000	0.86243	CCC		PASS	0.363	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		26	192	26	192	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72345210	72345210	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr18:72345210C>A	ENST00000299687.5	+	1	2235	c.2235C>A	c.(2233-2235)agC>agA	p.S745R	ZNF407_ENST00000582337.1_Missense_Mutation_p.S745R|ZNF407_ENST00000309902.6_Missense_Mutation_p.S745R|ZNF407_ENST00000577538.1_Missense_Mutation_p.S745R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	745					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.S745R(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTCATTGAGCAAAGAAGGAA	0.318																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2233-2235)AGC>AGA		zinc finger protein 407 isoform 1							53.0	52.0	52.0					18																	72345210		1817	4090	5907	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345210C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2235C>A	18.37:g.72345210C>A	ENSP00000299687:p.Ser745Arg					ZNF407_uc010xfc.1_Missense_Mutation_p.S745R|ZNF407_uc010dqu.1_Missense_Mutation_p.S745R|ZNF407_uc002llu.2_Missense_Mutation_p.S744R	p.S745R	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2292	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	745					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2235C>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875644	0.51695	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11821	2.74;3.22	5.56	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.270585	0.17946	U	0.156698	T	0.26122	0.0637	L	0.40543	1.245	0.44603	D	0.99757	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.997;0.975	T	0.01121	-1.1445	10	0.23891	T	0.37	.	12.4186	0.55508	0.0:0.86:0.0:0.14	.	745;745;745	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	R	745	ENSP00000299687:S745R;ENSP00000310359:S745R	ENSP00000299687:S745R	S	+	3	2	ZNF407	70474198	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.934000	0.28910	2.116000	0.64780	0.377000	0.23210	AGC		PASS	0.318	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		12	76	12	76	---	---	---	---
MIER2	54531	broad.mit.edu	37	19	326584	326584	+	Missense_Mutation	SNP	C	C	G	rs370003436		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:326584C>G	ENST00000264819.4	-	6	518	c.508G>C	c.(508-510)Gat>Cat	p.D170H	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D170H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCTTCATCAGCCAGGAAA	0.562																																						uc002lok.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAT>CAT		mesoderm induction early response 1, family							100.0	99.0	99.0					19																	326584		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:326584C>G	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.508G>C	19.37:g.326584C>G	ENSP00000264819:p.Asp170His						p.D170H	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	517	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	170					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.508G>C	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599234	0.28534	.	.	ENSG00000105556	ENST00000264819	T	0.41400	1.0	4.65	3.6	0.41247	.	0.949057	0.08657	N	0.912998	T	0.52517	0.1739	M	0.72894	2.215	0.09310	N	1	P	0.44877	0.845	P	0.46975	0.533	T	0.44982	-0.9292	10	0.66056	D	0.02	-0.4608	12.306	0.54902	0.0:0.9177:0.0:0.0823	.	170	Q8N344	MIER2_HUMAN	H	170	ENSP00000264819:D170H	ENSP00000264819:D170H	D	-	1	0	MIER2	277584	0.013000	0.17824	0.005000	0.12908	0.126000	0.20510	1.177000	0.31969	1.176000	0.42840	0.650000	0.86243	GAT		PASS	0.562	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		3	152	3	152	---	---	---	---
C19orf35	374872	broad.mit.edu	37	19	2278808	2278808	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:2278808G>T	ENST00000342063.3	-	3	480	c.387C>A	c.(385-387)caC>caA	p.H129Q		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	129								p.H129Q(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGGGCTGTGCAGATCGC	0.701																																						uc002lvn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(385-387)CAC>CAA		hypothetical protein LOC374872							7.0	9.0	8.0					19																	2278808		2168	4249	6417	SO:0001583	missense	374872							g.chr19:2278808G>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.387C>A	19.37:g.2278808G>T	ENSP00000345102:p.His129Gln					SPPL2B_uc010dsw.1_Intron	p.H129Q	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	487	-			129						Missense_Mutation	SNP	ENST00000342063.3	37	c.387C>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391978	0.42410	.	.	ENSG00000188305	ENST00000342063	T	0.13307	2.6	4.1	-2.37	0.06643	.	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.33135	0.399	B	0.23574	0.047	T	0.15350	-1.0440	9	0.45353	T	0.12	.	4.5691	0.12202	0.3762:0.2943:0.3296:0.0	.	129	Q6ZS72	CS035_HUMAN	Q	129	ENSP00000345102:H129Q	ENSP00000345102:H129Q	H	-	3	2	C19orf35	2229808	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.325000	0.02687	-0.769000	0.04620	0.442000	0.29010	CAC		PASS	0.701	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		7	13	7	13	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5587258	5587258	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:5587258T>A	ENST00000252542.4	-	21	3122	c.2858A>T	c.(2857-2859)tAc>tTc	p.Y953F		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	953	Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y953F(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGGACTTAGTAGCGGCGGGT	0.617																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2857-2859)TAC>TTC		scaffold attachment factor B2							26.0	28.0	27.0					19																	5587258		2201	4299	6500	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587258T>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2858A>T	19.37:g.5587258T>A	ENSP00000252542:p.Tyr953Phe						p.Y953F	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	21	3070	-			953			Interacts with SAFB1.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.2858A>T	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	t	16.08	3.020857	0.54576	.	.	ENSG00000130254	ENST00000252542	T	0.09817	2.94	4.13	4.13	0.48395	.	0.180980	0.26875	N	0.022044	T	0.13841	0.0335	N	0.08118	0	0.30686	N	0.75188	D	0.63880	0.993	D	0.70227	0.968	T	0.04090	-1.0978	10	0.87932	D	0	.	10.5292	0.44967	0.0:0.0:0.0:1.0	.	953	Q14151	SAFB2_HUMAN	F	953	ENSP00000252542:Y953F	ENSP00000252542:Y953F	Y	-	2	0	SAFB2	5538258	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	4.410000	0.59774	1.495000	0.48549	0.459000	0.35465	TAC		PASS	0.617	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		12	57	12	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9067655	9067655	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:9067655C>A	ENST00000397910.4	-	3	19994	c.19791G>T	c.(19789-19791)gtG>gtT	p.V6597V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6599	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V6597V(2)|p.V2230V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGGTCCCCACATTGGTTA	0.438																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19789-19791)GTG>GTT		mucin 16							194.0	177.0	182.0					19																	9067655		1930	4128	6058	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067655C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19791G>T	19.37:g.9067655C>A							p.V6597V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19995	-			6599			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.19791G>T	CCDS54212.1																																																																																				PASS	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		77	253	77	253	---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12858298	12858298	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:12858298G>T	ENST00000591090.1	+	7	909	c.807G>T	c.(805-807)aaG>aaT	p.K269N	ASNA1_ENST00000357332.3_Missense_Mutation_p.K269N					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.K269N(1)		endometrium(1)|lung(6)|ovary(3)	10						CCAAGTGCAAGATTGACACAC	0.527																																						uc002muv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(805-807)AAG>AAT		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						94.0	82.0	86.0					19																	12858298		2203	4300	6503	SO:0001583	missense	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12858298G>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.807G>T	19.37:g.12858298G>T	ENSP00000466379:p.Lys269Asn					ASNA1_uc002muw.2_Missense_Mutation_p.K268N	p.K269N	NM_004317	NP_004308	O43681	ASNA_HUMAN			6	821	+			269						Missense_Mutation	SNP	ENST00000591090.1	37	c.807G>T	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	4.220	0.039705	0.08148	.	.	ENSG00000198356	ENST00000357332	T	0.40476	1.03	5.1	5.1	0.69264	.	0.180558	0.49916	D	0.000134	T	0.14614	0.0353	N	0.01729	-0.75	0.42139	D	0.991504	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.004	T	0.20207	-1.0282	10	0.07990	T	0.79	-45.5803	7.42	0.27067	0.0899:0.1711:0.7391:0.0	.	251;269	E7EVN0;O43681	.;ASNA_HUMAN	N	269	ENSP00000349887:K269N	ENSP00000349887:K269N	K	+	3	2	ASNA1	12719298	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.518000	0.35877	2.363000	0.80096	0.655000	0.94253	AAG		PASS	0.527	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		14	71	14	71	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13004297	13004297	+	Splice_Site	SNP	G	G	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:13004297G>A	ENST00000222214.5	+	6	546	c.335G>A	c.(334-336)gGa>gAa	p.G112E	GCDH_ENST00000457854.1_Splice_Site_p.G112E|GCDH_ENST00000422947.2_Splice_Site_p.G68E|GCDH_ENST00000591470.1_Splice_Site_p.G112E			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	112					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.G112E(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CTACCACCAGGATATGGCTGT	0.597																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(334-336)GGA>GAA		glutaryl-Coenzyme A dehydrogenase isoform a							116.0	89.0	98.0					19																	13004297		2203	4300	6503	SO:0001630	splice_region_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13004297G>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.335-1G>A	19.37:g.13004297G>A						GCDH_uc010xms.1_Missense_Mutation_p.G79E|GCDH_uc002mvp.2_Missense_Mutation_p.G112E|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Missense_Mutation_p.G68E	p.G112E	NM_000159	NP_000150	Q92947	GCDH_HUMAN			6	412	+			112					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.335G>A	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119555	0.56505	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;T	0.99458	-5.93;-5.93;1.94	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.051343	0.85682	D	0.000000	D	0.97776	0.9270	N	0.21240	0.645	0.80722	D	1	B;P;P;P	0.40909	0.196;0.531;0.6;0.732	B;B;B;B	0.41691	0.108;0.364;0.27;0.323	D	0.98490	1.0609	9	.	.	.	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	68;79;112;112	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	E	112;112;79;68	ENSP00000394872:G112E;ENSP00000222214:G112E;ENSP00000394821:G68E	.	G	+	2	0	GCDH	12865297	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	7.303000	0.78871	2.584000	0.87258	0.563000	0.77884	GGA		PASS	0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		Missense_Mutation	16	67	16	67	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19656165	19656165	+	Silent	SNP	G	G	T	rs149585848	byFrequency	TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:19656165G>T	ENST00000291495.5	+	8	2896	c.2811G>T	c.(2809-2811)cgG>cgT	p.R937R	CILP2_ENST00000586018.1_Silent_p.R943R	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	937						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R937R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGAGTTCCGGGCCTGCTTCC	0.657																																						uc002nmv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2809-2811)CGG>CGT		cartilage intermediate layer protein 2							25.0	21.0	22.0					19																	19656165		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656165G>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2811G>T	19.37:g.19656165G>T						CILP2_uc002nmw.3_Silent_p.R943R	p.R937R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2896	+			937					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2811G>T	CCDS12405.1																																																																																				PASS	0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		7	23	7	23	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039383	31039383	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:31039383G>T	ENST00000355537.3	+	4	3004	c.2857G>T	c.(2857-2859)Gat>Tat	p.D953Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					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.D953Y(2)		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)					CCACGGAGTGGATGGTGGTGA	0.542																																						uc002nsu.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2857-2859)GAT>TAT		zinc finger protein 536							116.0	125.0	122.0					19																	31039383		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039383G>T		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.2857G>T	19.37:g.31039383G>T	ENSP00000347730:p.Asp953Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.D953Y	p.D953Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2995	+	Esophageal squamous(110;0.0834)		953					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2857G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036786	0.08148	.	.	ENSG00000198597	ENST00000355537	T	0.10477	2.87	5.69	5.69	0.88448	.	0.204916	0.49916	D	0.000136	T	0.09818	0.0241	L	0.27053	0.805	0.29084	N	0.882527	P;P	0.44195	0.828;0.828	B;B	0.36885	0.235;0.235	T	0.04153	-1.0973	10	0.42905	T	0.14	-13.8036	19.7977	0.96492	0.0:0.0:1.0:0.0	.	953;953	A7E228;O15090	.;ZN536_HUMAN	Y	953	ENSP00000347730:D953Y	ENSP00000347730:D953Y	D	+	1	0	ZNF536	35731223	1.000000	0.71417	0.234000	0.24042	0.760000	0.43138	4.601000	0.61090	2.692000	0.91855	0.491000	0.48974	GAT		PASS	0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		73	268	73	268	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33697590	33697590	+	Missense_Mutation	SNP	A	A	T	rs34027670		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:33697590A>T	ENST00000253193.7	+	6	1878	c.1676A>T	c.(1675-1677)cAg>cTg	p.Q559L	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	559					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.Q559L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTCATCGCCCAGGGCCTCATT	0.672																																						uc010edh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1675-1677)CAG>CTG		low density lipoprotein receptor-related protein							99.0	92.0	94.0					19																	33697590		2203	4300	6503	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697590A>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1676A>T	19.37:g.33697590A>T	ENSP00000253193:p.Gln559Leu					LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.Q433L	p.Q559L	NM_002333	NP_002324	O75074	LRP3_HUMAN			6	1769	+	Esophageal squamous(110;0.137)		559			Cytoplasmic (Potential).		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1676A>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.477137	0.63849	.	.	ENSG00000130881	ENST00000253193	D	0.88124	-2.34	4.32	4.32	0.51571	.	0.134122	0.50627	D	0.000110	D	0.89767	0.6810	L	0.39898	1.24	0.58432	D	0.999999	B;D	0.76494	0.024;0.999	B;D	0.78314	0.007;0.991	D	0.90559	0.4514	10	0.66056	D	0.02	-21.3317	13.0827	0.59123	1.0:0.0:0.0:0.0	.	559;477	O75074;B7ZAJ9	LRP3_HUMAN;.	L	559	ENSP00000253193:Q559L	ENSP00000253193:Q559L	Q	+	2	0	LRP3	38389430	1.000000	0.71417	0.995000	0.50966	0.867000	0.49689	9.031000	0.93731	1.948000	0.56530	0.402000	0.26972	CAG		PASS	0.672	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			33	131	33	131	---	---	---	---
LGI4	163175	broad.mit.edu	37	19	35616357	35616357	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:35616357C>A	ENST00000310123.3	-	9	1873	c.1354G>T	c.(1354-1356)Ggt>Tgt	p.G452C	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Silent_p.A477A	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	452					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)		p.G452C(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACGTGGGCACCGCGCGAGGGA	0.662																																						uc002nxx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1354-1356)GGT>TGT		leucine-rich repeat LGI family, member 4							18.0	17.0	17.0					19																	35616357		2203	4297	6500	SO:0001583	missense	163175					extracellular region		g.chr19:35616357C>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1354G>T	19.37:g.35616357C>A	ENSP00000312273:p.Gly452Cys					LGI4_uc002nxy.1_Missense_Mutation_p.G280C|LGI4_uc002nxz.1_3'UTR	p.G452C	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1948	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		452			EAR 4.		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1354G>T	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883482	0.72410	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	D	0.81579	-1.51	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000003	D	0.88876	0.6556	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90129	0.4205	10	0.87932	D	0	.	15.9909	0.80206	0.0:1.0:0.0:0.0	.	452	Q8N135	LGI4_HUMAN	C	452;453	ENSP00000312273:G452C	ENSP00000312273:G452C	G	-	1	0	LGI4	40308197	1.000000	0.71417	0.075000	0.20258	0.420000	0.31355	7.181000	0.77682	2.363000	0.80096	0.484000	0.47621	GGT		PASS	0.662	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			4	8	4	8	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35802819	35802819	+	Splice_Site	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:35802819A>G	ENST00000392213.3	+	10	1775		c.e10-1		MAG_ENST00000593348.1_Splice_Site|MAG_ENST00000361922.4_Splice_Site|MAG_ENST00000537831.2_Splice_Site	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGCCCTGCAGAAAGAACGT	0.597																																						uc002nyy.1																			2	Unknown(2)		lung(2)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.e10-2		myelin associated glycoprotein isoform a							48.0	35.0	39.0					19																	35802819		2203	4300	6503	SO:0001630	splice_region_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35802819A>G	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1617-1A>G	19.37:g.35802819A>G						MAG_uc002nyx.1_Splice_Site_p.K539_splice|MAG_uc010eds.1_Splice_Site_p.K514_splice|MAG_uc002nyz.1_Splice_Site_p.K539_splice	p.K539_splice	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		10	1766	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)						B7Z2E5|F5GYC0|Q567S4	Splice_Site	SNP	ENST00000392213.3	37	c.1617_splice	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	a	16.34	3.096751	0.56075	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8726	0.57972	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAG	40494659	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.515000	0.53429	1.996000	0.58369	0.454000	0.30748	.		PASS	0.597	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	Intron	5	17	5	17	---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38125950	38125950	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:38125950C>T	ENST00000351218.2	-	6	2049	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	ZFP30_ENST00000514101.2_Missense_Mutation_p.E498K|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.E498K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	498					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.E498K(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTACATTCCTTACATTTG	0.338																																						uc002ogv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1492-1494)GAA>AAA		zinc finger protein 30 homolog							74.0	71.0	72.0					19																	38125950		2202	4300	6502	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38125950C>T	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1492G>A	19.37:g.38125950C>T	ENSP00000343581:p.Glu498Lys					ZFP30_uc002ogw.1_Missense_Mutation_p.E498K|ZFP30_uc002ogx.1_Missense_Mutation_p.E498K|ZFP30_uc010xtt.1_Missense_Mutation_p.E497K	p.E498K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2008	-			498			C2H2-type 13.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.1492G>A	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887968	0.52014	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.35973	1.28;1.28;1.28	3.89	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35838	N	0.002958	T	0.27278	0.0669	L	0.38733	1.17	0.24072	N	0.995977	P;P	0.44816	0.844;0.844	B;B	0.42692	0.395;0.395	T	0.12116	-1.0560	10	0.52906	T	0.07	.	7.0905	0.25282	0.0:0.7168:0.1787:0.1044	.	498;498	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	K	498;498;498;413	ENSP00000343581:E498K;ENSP00000422930:E498K;ENSP00000375988:E498K	ENSP00000343581:E498K	E	-	1	0	ZFP30	42817790	0.165000	0.22948	0.999000	0.59377	0.997000	0.91878	0.943000	0.29030	2.170000	0.68504	0.585000	0.79938	GAA		PASS	0.338	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		26	120	26	120	---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46215710	46215710	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:46215710G>T	ENST00000317683.3	-	2	1177	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	348								p.P348P(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGCGCCGGGGGAGTGTCCT	0.701																																						uc002pcy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1042-1044)CCC>CCA		F-box protein 46							15.0	17.0	17.0					19																	46215710		1900	4090	5990	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215710G>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1044C>A	19.37:g.46215710G>T						FBXO46_uc002pcz.2_Silent_p.P348P	p.P348P	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1169	-		Ovarian(192;0.179)|all_neural(266;0.224)	348						Silent	SNP	ENST00000317683.3	37	c.1044C>A	CCDS46116.1																																																																																				PASS	0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		7	10	7	10	---	---	---	---
PLA2G4C	8605	broad.mit.edu	37	19	48607849	48607849	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:48607849T>C	ENST00000599921.1	-	4	610	c.253A>G	c.(253-255)Act>Gct	p.T85A	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.T95A|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.T85A|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.T85A			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	85	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.T85A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GCTTACCAAGTGGATCCAGAG	0.493																																						uc002phx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(253-255)ACT>GCT		phospholipase A2, group IVC isoform 1 precursor							132.0	117.0	122.0					19																	48607849		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48607849T>C	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.253A>G	19.37:g.48607849T>C	ENSP00000469473:p.Thr85Ala					PLA2G4C_uc002phw.2_Missense_Mutation_p.T20A|PLA2G4C_uc010elr.2_Missense_Mutation_p.T85A|PLA2G4C_uc010xzd.1_Missense_Mutation_p.T95A|PLA2G4C_uc002phy.3_Missense_Mutation_p.T85A	p.T85A	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	4	651	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	85			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.253A>G	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118987	0.37436	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.03580	3.88;3.88	3.37	3.37	0.38596	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.12732	0.0309	M	0.63208	1.945	0.30660	N	0.754551	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.989;1.0	T	0.00891	-1.1525	10	0.87932	D	0	.	8.4743	0.33003	0.0:0.0:0.0:1.0	.	95;85;85	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	A	85	ENSP00000346228:T85A;ENSP00000400036:T85A	ENSP00000346228:T85A	T	-	1	0	PLA2G4C	53299661	1.000000	0.71417	0.991000	0.47740	0.203000	0.24098	3.690000	0.54713	1.301000	0.44836	0.332000	0.21555	ACT		PASS	0.493	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			41	140	41	140	---	---	---	---
IGLON5	402665	broad.mit.edu	37	19	51827045	51827045	+	Silent	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:51827045C>A	ENST00000270642.8	+	3	288	c.288C>A	c.(286-288)tcC>tcA	p.S96S		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	96	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.S96S(1)		large_intestine(5)|lung(6)|prostate(1)	12						AGGAGTTCTCCATCCTCATCA	0.642																																						uc002pwc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)TCC>TCA		IgLON family member 5 precursor							39.0	46.0	44.0					19																	51827045		1991	4142	6133	SO:0001819	synonymous_variant	402665					extracellular region		g.chr19:51827045C>A		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.288C>A	19.37:g.51827045C>A							p.S96S	NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN			3	288	+			96			Ig-like C2-type 1.			Silent	SNP	ENST00000270642.8	37	c.288C>A	CCDS46158.1																																																																																				PASS	0.642	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		7	39	7	39	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762509	53762509	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:53762509A>C	ENST00000341702.3	+	1	965	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	294					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.Q294P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CACAAACAGCAGGTACAACAC	0.483																																						uc002qbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CAG>CCG		vomeronasal 1 receptor 2							168.0	153.0	158.0					19																	53762509		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762509A>C	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.881A>C	19.37:g.53762509A>C	ENSP00000351244:p.Gln294Pro						p.Q294P	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	965	+			294			Cytoplasmic (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.881A>C	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264933	0.23136	.	.	ENSG00000196131	ENST00000341702	T	0.14022	2.54	2.94	-5.88	0.02290	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26521	0.0648	L	0.60845	1.875	0.09310	N	1	D	0.69078	0.997	D	0.68943	0.961	T	0.22487	-1.0215	9	0.87932	D	0	.	10.6298	0.45530	0.1901:0.1135:0.6963:0.0	.	294	Q8NFZ6	VN1R2_HUMAN	P	294	ENSP00000351244:Q294P	ENSP00000351244:Q294P	Q	+	2	0	VN1R2	58454321	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.719000	0.04974	-2.268000	0.00685	-1.473000	0.01005	CAG		PASS	0.483	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		44	211	44	211	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56538777	56538777	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr19:56538777G>T	ENST00000390649.3	+	7	1178	c.1178G>T	c.(1177-1179)aGt>aTt	p.S393I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	393	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.S393I(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)		CTCATACGCAGTCTGCTGAGG	0.552																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1177-1179)AGT>ATT		NACHT, LRR and PYD containing protein 5							48.0	49.0	49.0					19																	56538777		2095	4210	6305	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538777G>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.1178G>T	19.37:g.56538777G>T	ENSP00000375063:p.Ser393Ile					NLRP5_uc002qmi.2_Missense_Mutation_p.S374I	p.S393I	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1178	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	393			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1178G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330512	0.41297	.	.	ENSG00000171487	ENST00000390649	T	0.79940	-1.32	3.26	2.22	0.28083	NACHT nucleoside triphosphatase (1);	0.000000	0.41712	D	0.000835	D	0.86908	0.6046	M	0.81682	2.555	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.76113	-0.3078	10	0.87932	D	0	.	6.1448	0.20278	0.1395:0.0:0.8605:0.0	.	393	P59047	NALP5_HUMAN	I	393	ENSP00000375063:S393I	ENSP00000375063:S393I	S	+	2	0	NLRP5	61230589	0.574000	0.26684	0.037000	0.18230	0.061000	0.15899	3.059000	0.49947	0.931000	0.37242	0.655000	0.94253	AGT		PASS	0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		13	31	13	31	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903744	5903745	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr20:5903744_5903745GG>AT	ENST00000378961.4	+	4	1158_1159	c.954_955GG>AT	c.(952-957)atGGcc>atATcc	p.318_319MA>IS		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	318						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.A319S(1)|p.M318_A319>IS(1)|p.M318I(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACGTCAGCATGGCCAGTTTAGG	0.54																																						uc002wmg.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	breast(3)|skin(2)|ovary(1)	6						c.(952-954)ATG>ATA|c.(955-957)GCC>TCC		chromogranin B precursor																																				SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903744G>A|g.chr20:5903745G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	Exception_encountered	20.37:g.5903744_5903745delinsAT	ENSP00000368244:p.M318_A319delinsIS					CHGB_uc010zqz.1_Missense_Mutation_p.M1I|CHGB_uc010zqz.1_Missense_Mutation_p.A2S	p.M318I|p.A319S	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1260|1261	+			318|319					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.954G>A|c.955G>T	CCDS13092.1																																																																																				PASS	0.540	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		19	79|78	19	78	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7894954	7894954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr20:7894954G>T	ENST00000378789.3	-	3	453	c.402C>A	c.(400-402)taC>taA	p.Y134*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	134	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.Y134*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCGGTCCTTGTAGATATACA	0.537																																						uc002wmw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(400-402)TAC>TAA		hydroxyacid oxidase 1							166.0	106.0	126.0					20																	7894954		2203	4300	6503	SO:0001587	stop_gained	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7894954G>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.402C>A	20.37:g.7894954G>T	ENSP00000368066:p.Tyr134*					HAO1_uc010gbu.2_Nonsense_Mutation_p.Y134*	p.Y134*	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			3	426	-			134			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Nonsense_Mutation	SNP	ENST00000378789.3	37	c.402C>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326349	0.81690	.	.	ENSG00000101323	ENST00000378789	.	.	.	6.17	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1526	14.3815	0.66914	0.1777:0.0:0.8223:0.0	.	.	.	.	X	134	.	ENSP00000368066:Y134X	Y	-	3	2	HAO1	7842954	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	1.583000	0.36579	0.953000	0.37825	-0.797000	0.03246	TAC		PASS	0.537	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			21	74	21	74	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30729590	30729590	+	Silent	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr20:30729590G>T	ENST00000398022.2	+	5	655	c.420G>T	c.(418-420)gtG>gtT	p.V140V	TM9SF4_ENST00000217315.5_Silent_p.V123V	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	140						integral component of membrane (GO:0016021)		p.V123V(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCTGCCTGTGGCCACCCGGC	0.587																																						uc002wxj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(418-420)GTG>GTT		transmembrane 9 superfamily protein member 4							106.0	120.0	115.0					20																	30729590		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30729590G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.420G>T	20.37:g.30729590G>T						TM9SF4_uc010ztr.1_Silent_p.V66V|TM9SF4_uc010zts.1_Silent_p.V47V|TM9SF4_uc002wxk.2_Silent_p.V123V|TM9SF4_uc010gdz.2_Silent_p.V47V	p.V140V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		5	655	+			140					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.420G>T	CCDS13196.2																																																																																				PASS	0.587	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		31	154	31	154	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36640671	36640671	+	Silent	SNP	C	C	G	rs544143684		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr20:36640671C>G	ENST00000373448.2	-	3	1786	c.1548G>C	c.(1546-1548)gtG>gtC	p.V516V	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000373447.3_Silent_p.V516V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	516					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.V516V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCGGTAAACCACAGATTGAT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20407	0.0		0.0	False		,,,				2504	0.001					uc002xhl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1546-1548)GTG>GTC		hypothetical protein LOC9675							52.0	55.0	54.0					20																	36640671		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640671C>G	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1548G>C	20.37:g.36640671C>G						KIAA0406_uc002xhm.2_Silent_p.V516V	p.V516V	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1757	-		Myeloproliferative disorder(115;0.00874)	516					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1548G>C	CCDS13300.1																																																																																				PASS	0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		37	107	37	107	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37531435	37531436	+	Splice_Site	DNP	GG	GG	TT			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr20:37531435_37531436GG>TT	ENST00000299824.1	+	6	885	c.696_696GG>TT	c.(694-696)ctGG>ctTTg	p.L232L	PPP1R16B_ENST00000373331.2_Splice_Site_p.L232L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	232					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.?(2)|p.L232L(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTGCCACACTGGTGAGGAGATG	0.614																																						uc002xje.2																			3	Unknown(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(694-696)CTG>CTT|c.e6+1		protein phosphatase 1 regulatory inhibitor																																				SO:0001630	splice_region_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37531435G>T|g.chr20:37531436G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	Exception_encountered	20.37:g.37531435_37531436delinsTT						PPP1R16B_uc010ggc.2_Silent_p.L232L|PPP1R16B_uc010ggc.2_Splice_Site_p.L232_splice	p.L232L|p.L232_splice	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			6	885	+		Myeloproliferative disorder(115;0.00878)	232|			ANK 3.|		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent|Splice_Site	SNP	ENST00000299824.1	37	c.696G>T|c.696_splice	CCDS13309.1																																																																																				PASS	0.614	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	Silent	18|17	107|105	17	105	---	---	---	---
C21orf91	54149	broad.mit.edu	37	21	19165739	19165739	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr21:19165739T>A	ENST00000284881.4	-	5	977	c.887A>T	c.(886-888)aAc>aTc	p.N296I	C21orf91_ENST00000400559.3_Missense_Mutation_p.N295I|C21orf91_ENST00000400558.3_3'UTR|C21orf91-OT1_ENST00000430815.1_lincRNA|AL109761.5_ENST00000428689.1_RNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3			chromosome 21 open reading frame 91									p.N296I(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGGTCAGTTGTTTATGGGTAG	0.453																																						uc002yko.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)AAC>ATC		early undifferentiated retina and lens isoform							148.0	144.0	146.0					21																	19165739		1959	4155	6114	SO:0001583	missense	54149							g.chr21:19165739T>A	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000284881.4:c.887A>T	21.37:g.19165739T>A	ENSP00000284881:p.Asn296Ile					C21orf91_uc002ykm.2_5'Flank|C21orf91_uc002ykn.2_5'Flank|C21orf91_uc002ykq.3_Missense_Mutation_p.N295I|C21orf91_uc002ykp.3_3'UTR	p.N296I	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	5	978	-			296						Missense_Mutation	SNP	ENST00000284881.4	37	c.887A>T	CCDS42907.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228711	0.39399	.	.	ENSG00000154642	ENST00000284881;ENST00000400559	T;T	0.15487	2.42;2.42	5.05	-0.159	0.13379	.	0.675808	0.15613	N	0.253272	T	0.16854	0.0405	N	0.24115	0.695	0.36602	D	0.87474	P;P	0.39250	0.665;0.535	P;B	0.49332	0.607;0.403	T	0.23833	-1.0177	10	0.87932	D	0	-2.5777	8.5083	0.33201	0.0:0.4232:0.0:0.5768	.	295;296	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	I	296;295	ENSP00000284881:N296I;ENSP00000383404:N295I	ENSP00000284881:N296I	N	-	2	0	C21orf91	18087610	0.997000	0.39634	0.992000	0.48379	0.927000	0.56198	0.193000	0.17116	0.060000	0.16281	0.533000	0.62120	AAC		PASS	0.453	C21orf91-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158215.1	NM_017447		13	28	13	28	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30357092	30357092	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr21:30357092G>T	ENST00000361371.5	-	4	576	c.497C>A	c.(496-498)gCa>gAa	p.A166E	LTN1_ENST00000389194.2_Missense_Mutation_p.A212E|LTN1_ENST00000389195.2_Missense_Mutation_p.A212E			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	166					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A166E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGCATCTTTTGCTGCAAACGC	0.398																																						uc002ymr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GCA>GAA		zinc finger protein 294							117.0	110.0	113.0					21																	30357092		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30357092G>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.497C>A	21.37:g.30357092G>T	ENSP00000354977:p.Ala166Glu					RNF160_uc010gll.1_RNA	p.A212E	NM_015565	NP_056380	O94822	LTN1_HUMAN			4	648	-			166					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.635C>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.761131	0.89932	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.73469	0.72;0.76;-0.75	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88596	0.6479	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89840	0.4002	10	0.87932	D	0	.	19.3304	0.94283	0.0:0.0:1.0:0.0	.	166	O94822	LTN1_HUMAN	E	212;166;168;212	ENSP00000373846:A212E;ENSP00000354977:A166E;ENSP00000373847:A212E	ENSP00000354977:A166E	A	-	2	0	LTN1	29278963	1.000000	0.71417	0.989000	0.46669	0.751000	0.42716	9.263000	0.95617	2.805000	0.96524	0.460000	0.39030	GCA		PASS	0.398	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		5	140	5	140	---	---	---	---
KRTAP21-2	337978	broad.mit.edu	37	21	32119451	32119451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr21:32119451C>A	ENST00000333892.2	-	1	100	c.70G>T	c.(70-72)Gga>Tga	p.G24*		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	24						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)	p.G24*(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						caaccatatccacagccggaa	0.527																																						uc011adh.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(70-72)GGA>TGA		keratin associated protein 21-2							160.0	141.0	147.0					21																	32119451		2203	4300	6503	SO:0001587	stop_gained	337978					intermediate filament		g.chr21:32119451C>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.70G>T	21.37:g.32119451C>A	ENSP00000334287:p.Gly24*						p.G24*	NM_181617	NP_853648	Q3LI59	KR212_HUMAN			1	70	-			24						Nonsense_Mutation	SNP	ENST00000333892.2	37	c.70G>T	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016825	0.54576	.	.	ENSG00000187026	ENST00000333892	.	.	.	3.97	3.97	0.46021	.	0.440276	0.16053	U	0.231863	.	.	.	.	.	.	0.24462	N	0.994436	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9327	0.52855	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000334287:G24X	G	-	1	0	KRTAP21-2	31041322	0.086000	0.21541	0.052000	0.19188	0.003000	0.03518	1.616000	0.36933	1.961000	0.56991	0.650000	0.86243	GGA		PASS	0.527	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			41	61	41	61	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	17978494	17978494	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr22:17978494G>T	ENST00000400573.5	+	4	399	c.392G>T	c.(391-393)gGg>gTg	p.G131V	CECR2_ENST00000342247.5_Missense_Mutation_p.G111V|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.G112V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	153					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.G131V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACAATTCTGGGGCACTATAT	0.488																																						uc010gqw.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)|skin(1)	2						c.(331-333)GGG>GTG		cat eye syndrome chromosome region, candidate 2							94.0	90.0	91.0					22																	17978494		1866	4110	5976	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17978494G>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.392G>T	22.37:g.17978494G>T	ENSP00000383417:p.Gly131Val					CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	p.G111V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	3	458	+		all_epithelial(15;0.139)	153					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37	c.332G>T		.	.	.	.	.	.	.	.	.	.	G	31	5.076467	0.94000	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.48201	0.82;0.82;0.82	6.01	6.01	0.97437	.	0.000000	0.36591	U	0.002510	T	0.73187	0.3555	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.87932	D	0	-13.9556	20.5141	0.99211	0.0:0.0:1.0:0.0	.	153	Q9BXF3	CECR2_HUMAN	V	111;131;112	ENSP00000341219:G111V;ENSP00000383417:G131V;ENSP00000262608:G112V	ENSP00000262608:G112V	G	+	2	0	CECR2	16358494	1.000000	0.71417	0.926000	0.36857	0.874000	0.50279	9.381000	0.97205	2.850000	0.98022	0.655000	0.94253	GGG		PASS	0.488	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413		25	66	25	66	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26736444	26736444	+	Silent	SNP	C	C	T	rs141142000		TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr22:26736444C>T	ENST00000248933.6	+	10	2153	c.2058C>T	c.(2056-2058)ggC>ggT	p.G686G	SEZ6L_ENST00000404234.3_Silent_p.G686G|SEZ6L_ENST00000529632.2_Silent_p.G686G|SEZ6L_ENST00000343706.4_Silent_p.G686G|SEZ6L_ENST00000402979.1_Silent_p.G459G|SEZ6L_ENST00000403121.1_Silent_p.G459G|SEZ6L_ENST00000360929.3_Silent_p.G686G			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	686	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G686G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTACGATGGCGACGAGGTCA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19910	0.0		0.001	False		,,,				2504	0.0					uc003acb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2056-2058)GGC>GGT		seizure related 6 homolog (mouse)-like		C	,,,,,	0,4406		0,0,2203	155.0	144.0	148.0		2058,2058,2058,2058,2058,2058	-10.0	0.0	22	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	686/1024,686/1014,686/1012,686/950,686/949,686/1025	26736444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26736444C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2058C>T	22.37:g.26736444C>T						SEZ6L_uc003acc.2_Silent_p.G686G|SEZ6L_uc011akc.1_Silent_p.G686G|SEZ6L_uc003acd.2_Silent_p.G686G|SEZ6L_uc011akd.1_Silent_p.G686G|SEZ6L_uc003ace.2_Silent_p.G686G|SEZ6L_uc003acf.1_Silent_p.G459G|SEZ6L_uc010gvc.1_Silent_p.G459G	p.G686G	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			10	2214	+			686			CUB 3.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2058C>T	CCDS13833.1																																																																																				PASS	0.517	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			80	335	80	335	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40078600	40078600	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr22:40078600C>G	ENST00000402142.3	+	35	5764	c.5764C>G	c.(5764-5766)Ctg>Gtg	p.L1922V	CACNA1I_ENST00000404898.1_Missense_Mutation_p.L1887V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L1887V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.L1928V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L1887V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L1922V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1922					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L1922V(1)|p.L1887V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGAGAACTTCCTGTGTGAGAT	0.617																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(5764-5766)CTG>GTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						63.0	67.0	65.0					22																	40078600		2010	4160	6170	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40078600C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5764C>G	22.37:g.40078600C>G	ENSP00000385019:p.Leu1922Val					CACNA1I_uc003ayd.2_Missense_Mutation_p.L1887V|CACNA1I_uc003aye.2_Missense_Mutation_p.L1837V|CACNA1I_uc003ayf.2_Missense_Mutation_p.L1802V	p.L1922V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			35	5764	+	Melanoma(58;0.0749)		1922			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5764C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737021	0.49045	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96992	-4.18;-4.14;-4.14;-4.1;-4.2;-4.11	4.94	4.94	0.65067	.	5.060540	0.00649	N	0.000554	D	0.95884	0.8660	L	0.51422	1.61	0.31220	N	0.697601	P;P;P;P	0.40909	0.496;0.732;0.732;0.612	B;B;B;B	0.41988	0.269;0.372;0.372;0.206	D	0.88156	0.2854	10	0.51188	T	0.08	.	13.1593	0.59535	0.1599:0.8401:0.0:0.0	.	1887;1922;1887;1922	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	V	1922;1887;1922;1887;1928;1887	ENSP00000385019:L1922V;ENSP00000384093:L1887V;ENSP00000383887:L1922V;ENSP00000385680:L1887V;ENSP00000337829:L1928V;ENSP00000383028:L1887V	ENSP00000337829:L1928V	L	+	1	2	CACNA1I	38408546	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.209000	0.32357	2.286000	0.76751	0.655000	0.94253	CTG		PASS	0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		38	61	38	61	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237233	30237233	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:30237233C>A	ENST00000378988.4	+	2	637	c.536C>A	c.(535-537)aCc>aAc	p.T179N		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	179	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.T179N(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CACACTTACACCTTCATCGAC	0.522																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(535-537)ACC>AAC		melanoma antigen family B, 2							56.0	45.0	49.0					X																	30237233		2202	4299	6501	SO:0001583	missense	4113						protein binding	g.chrX:30237233C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.536C>A	X.37:g.30237233C>A	ENSP00000368273:p.Thr179Asn						p.T179N	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	639	+			179			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.536C>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788644	0.16258	.	.	ENSG00000099399	ENST00000378988	T	0.04917	3.53	3.27	-2.02	0.07388	.	0.171751	0.47093	D	0.000248	T	0.06142	0.0159	M	0.73217	2.22	0.09310	N	1	B	0.29232	0.238	B	0.29353	0.101	T	0.28332	-1.0047	10	0.33141	T	0.24	.	2.6651	0.05041	0.3524:0.2927:0.0:0.355	.	179	O15479	MAGB2_HUMAN	N	179	ENSP00000368273:T179N	ENSP00000368273:T179N	T	+	2	0	MAGEB2	30147154	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.230000	0.01207	-0.692000	0.05128	-0.422000	0.05995	ACC		PASS	0.522	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		18	23	18	23	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32481678	32481678	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:32481678T>A	ENST00000357033.4	-	25	3516	c.3310A>T	c.(3310-3312)Agt>Tgt	p.S1104C	DMD_ENST00000378677.2_Missense_Mutation_p.S1100C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1104					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S1104C(1)|p.S1099C(1)|p.S1100C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGTTTAGACTGGGCTGAATT	0.363																																						uc004dda.1																			3	Substitution - Missense(3)	p.L1104I(1)	lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3310-3312)AGT>TGT		dystrophin Dp427m isoform							123.0	89.0	100.0					X																	32481678		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32481678T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3310A>T	X.37:g.32481678T>A	ENSP00000354923:p.Ser1104Cys					DMD_uc004dcz.2_Missense_Mutation_p.S981C|DMD_uc004dcy.1_Missense_Mutation_p.S1100C|DMD_uc004ddb.1_Missense_Mutation_p.S1096C|DMD_uc010ngo.1_Intron	p.S1104C	NM_004006	NP_003997	P11532	DMD_HUMAN			25	3554	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1104			Spectrin 7.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3310A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560353	0.86335	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51574	0.7;0.7	5.43	5.43	0.79202	.	0.000000	0.43416	U	0.000562	T	0.67730	0.2924	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.71374	-0.4612	10	0.66056	D	0.02	.	14.5897	0.68354	0.0:0.0:0.0:1.0	.	1096;1104;1100	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	C	1096;1100;1104;1104;981	ENSP00000367948:S1100C;ENSP00000354923:S1104C	ENSP00000354923:S1104C	S	-	1	0	DMD	32391599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.841000	0.86834	1.825000	0.53177	0.356000	0.21956	AGT		PASS	0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		3	10	3	10	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148939	34148939	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:34148939C>A	ENST00000346193.3	-	1	1508	c.1457G>T	c.(1456-1458)cGt>cTt	p.R486L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	486								p.R486L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGACCTCCGACGTGTCTTGGG	0.637																																						uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1456-1458)CGT>CTT		hypothetical protein LOC158724							48.0	54.0	52.0					X																	34148939		2191	4285	6476	SO:0001583	missense	158724							g.chrX:34148939C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1457G>T	X.37:g.34148939C>A	ENSP00000345029:p.Arg486Leu						p.R486L	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1490	-			486					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1457G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.391560	0.25118	.	.	ENSG00000185448	ENST00000346193	T	0.13420	2.59	0.15	0.15	0.14883	.	.	.	.	.	T	0.16981	0.0408	L	0.27053	0.805	0.21527	N	0.999651	D	0.67145	0.996	D	0.62955	0.909	T	0.23332	-1.0191	8	0.30078	T	0.28	.	.	.	.	.	486	Q5JRC9	FA47A_HUMAN	L	486	ENSP00000345029:R486L	ENSP00000345029:R486L	R	-	2	0	FAM47A	34058860	0.068000	0.21057	0.007000	0.13788	0.026000	0.11368	1.419000	0.34793	0.181000	0.19994	0.183000	0.17082	CGT		PASS	0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		24	51	24	51	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50051889	50051889	+	Silent	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:50051889G>C	ENST00000376042.1	+	6	1018	c.720G>C	c.(718-720)cgG>cgC	p.R240R	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.R240R			Q8WWL7	CCNB3_HUMAN	cyclin B3	240					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.R240R(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAGTCAGCGGAAGCAGTCCT	0.418																																						uc004dox.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(718-720)CGG>CGC		cyclin B3 isoform 3							80.0	73.0	75.0					X																	50051889		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051889G>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.720G>C	X.37:g.50051889G>C						CCNB3_uc004doy.2_Silent_p.R240R|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.R240R	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1018	+	Ovarian(276;0.236)		240					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.720G>C	CCDS14331.1																																																																																				PASS	0.418	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			29	40	29	40	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53246997	53246997	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:53246997T>A	ENST00000375401.3	-	4	1035	c.503A>T	c.(502-504)cAg>cTg	p.Q168L	KDM5C_ENST00000404049.3_Missense_Mutation_p.Q168L|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q127L|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q101L|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q168L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	168	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.Q101L(1)|p.Q168L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCTCCAGACTGGTACATTTC	0.502			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(502-504)CAG>CTG		jumonji, AT rich interactive domain 1C isoform							102.0	75.0	84.0					X																	53246997		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53246997T>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.503A>T	X.37:g.53246997T>A	ENSP00000364550:p.Gln168Leu					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.Q101L|KDM5C_uc004dsa.2_Missense_Mutation_p.Q168L	p.Q168L	NM_004187	NP_004178	P41229	KDM5C_HUMAN			4	1036	-			168			ARID.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.503A>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297810	0.40694	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.21	5.21	0.72293	ARID/BRIGHT DNA-binding domain (4);	0.180537	0.50627	D	0.000110	T	0.48352	0.1495	L	0.38175	1.15	0.58432	D	0.99999	B;B;B	0.17268	0.009;0.021;0.012	B;B;B	0.23419	0.046;0.026;0.014	T	0.42666	-0.9438	10	0.37606	T	0.19	-25.2561	12.2137	0.54394	0.0:0.0:0.0:1.0	.	101;168;168	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	L	101;168;168;168;127	ENSP00000445176:Q101L;ENSP00000364550:Q168L;ENSP00000385394:Q168L;ENSP00000364528:Q168L;ENSP00000364532:Q127L	ENSP00000364528:Q168L	Q	-	2	0	KDM5C	53263722	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	7.875000	0.87205	1.858000	0.53909	0.430000	0.28490	CAG		PASS	0.502	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		24	30	24	30	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70832780	70832780	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:70832780T>G	ENST00000373695.1	+	12	2561	c.2024T>G	c.(2023-2025)gTc>gGc	p.V675G	ACRC_ENST00000373696.3_Missense_Mutation_p.V675G			Q96QF7	ACRC_HUMAN	acidic repeat containing	675	SprT-like.					nucleus (GO:0005634)		p.V675G(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGGTCTCTGGTCATGGTGCCA	0.473																																						uc004eae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2023-2025)GTC>GGC		ACRC protein							122.0	102.0	109.0					X																	70832780		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70832780T>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.2024T>G	X.37:g.70832780T>G	ENSP00000362799:p.Val675Gly					BCYRN1_uc011mpt.1_Intron	p.V675G	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			13	2525	+	Renal(35;0.156)		675					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.2024T>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225315	0.79576	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.46819	0.86;0.86	4.32	4.32	0.51571	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.67933	0.2946	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.72782	-0.4189	9	0.87932	D	0	.	10.6801	0.45809	0.0:0.0:0.0:1.0	.	675	Q96QF7	ACRC_HUMAN	G	675	ENSP00000362800:V675G;ENSP00000362799:V675G	ENSP00000362799:V675G	V	+	2	0	ACRC	70749505	0.993000	0.37304	0.031000	0.17742	0.277000	0.26821	2.311000	0.43717	1.718000	0.51419	0.417000	0.27973	GTC		PASS	0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			26	30	26	30	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73066617	73066617	+	lincRNA	SNP	C	C	A			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:73066617C>A	ENST00000429829.1	-	0	5971					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACCATGCTGTCCTTCAAAAGG	0.438																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							104.0	92.0	95.0					X																	73066617		876	1991	2867			7503							g.chrX:73066617C>A	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.73066617C>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.5972G>T																																																																																					PASS	0.438	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		46	44	46	44	---	---	---	---
FAM133A	286499	broad.mit.edu	37	X	92964597	92964597	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:92964597A>T	ENST00000355813.5	+	4	705	c.179A>T	c.(178-180)gAa>gTa	p.E60V	FAM133A_ENST00000332647.4_Missense_Mutation_p.E60V|FAM133A_ENST00000322139.4_Missense_Mutation_p.E60V|FAM133A_ENST00000538690.1_Missense_Mutation_p.E60V	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	60	Lys-rich.							p.E60V(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GCATTAGCTGAATTTGAAGAA	0.318																																						uc004efr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GAA>GTA		hypothetical protein LOC286499							29.0	30.0	29.0					X																	92964597		2181	4268	6449	SO:0001583	missense	286499							g.chrX:92964597A>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.179A>T	X.37:g.92964597A>T	ENSP00000348067:p.Glu60Val						p.E60V	NM_173698	NP_775969	Q8N9E0	F133A_HUMAN			4	492	+			60			Lys-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.179A>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	a	16.74	3.207407	0.58343	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.2	3.2	0.36748	.	0.053751	0.64402	D	0.000001	T	0.57695	0.2071	M	0.74881	2.28	0.25346	N	0.988908	D	0.76494	0.999	D	0.69479	0.964	T	0.47861	-0.9084	10	0.87932	D	0	-9.5212	7.1684	0.25704	1.0:0.0:0.0:0.0	.	60	Q8N9E0	F133A_HUMAN	V	60	ENSP00000441389:E60V;ENSP00000348067:E60V;ENSP00000318974:E60V;ENSP00000362169:E60V	ENSP00000318974:E60V	E	+	2	0	FAM133A	92851253	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.494000	0.45329	1.499000	0.48617	0.483000	0.47432	GAA		PASS	0.318	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		25	26	25	26	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105280897	105280897	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:105280897G>C	ENST00000327674.4	-	1	488	c.153C>G	c.(151-153)ttC>ttG	p.F51L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.F51L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	51					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F51L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTACAGATTGAATGCAAAGT	0.468																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)TTC>TTG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						155.0	137.0	143.0					X																	105280897		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280897G>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.153C>G	X.37:g.105280897G>C	ENSP00000329374:p.Phe51Leu					SERPINA7_uc010npd.2_Missense_Mutation_p.F51L|SERPINA7_uc010npe.1_Missense_Mutation_p.F51L	p.F51L	NM_000354	NP_000345	P05543	THBG_HUMAN			1	169	-			51					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.153C>G	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535153	0.45176	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83419	-1.72;-1.72	4.91	3.07	0.35406	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.12746	0.255	0.38182	D	0.93965	P	0.43607	0.812	P	0.46629	0.522	T	0.71826	-0.4475	10	0.51188	T	0.08	.	8.0263	0.30438	0.2155:0.0:0.7845:0.0	.	51	P05543	THBG_HUMAN	L	51	ENSP00000329374:F51L;ENSP00000361644:F51L	ENSP00000329374:F51L	F	-	3	2	SERPINA7	105167553	0.185000	0.23213	0.863000	0.33907	0.934000	0.57294	0.350000	0.20079	0.532000	0.28657	0.600000	0.82982	TTC		PASS	0.468	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		81	118	81	118	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110979954	110979954	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chrX:110979954A>G	ENST00000394780.3	+	23	2554	c.2542A>G	c.(2542-2544)Att>Gtt	p.I848V	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.I744V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	848					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.I249V(1)|p.I744V(1)|p.I848V(1)		endometrium(2)|lung(10)|skin(1)	13						GATGGGAAATATTGCAGCAGT	0.383																																						uc011msy.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(2542-2544)ATT>GTT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							183.0	154.0	163.0					X																	110979954		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110979954A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2542A>G	X.37:g.110979954A>G	ENSP00000378260:p.Ile848Val					ALG13_uc011msx.1_Missense_Mutation_p.I744V|ALG13_uc011msz.1_Missense_Mutation_p.I770V|ALG13_uc011mta.1_Missense_Mutation_p.I744V|ALG13_uc011mtb.1_Missense_Mutation_p.I744V	p.I848V			Q9NP73	ALG13_HUMAN			23	2576	+			848					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2542A>G	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.998822	0.00435	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.73575	1.56;-0.76	5.09	3.9	0.45041	.	0.186540	0.48767	D	0.000173	T	0.51363	0.1670	N	0.08118	0	0.22468	N	0.999071	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.35724	-0.9777	10	0.27785	T	0.31	-0.0822	8.9587	0.35834	0.1701:0.0:0.0:0.8299	.	770;848;744	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	V	744;848;481	ENSP00000251943:I744V;ENSP00000378260:I848V	ENSP00000251943:I744V	I	+	1	0	ALG13	110866610	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	3.049000	0.49869	0.811000	0.34303	-0.368000	0.07277	ATT		PASS	0.383	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		76	102	76	102	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7804743	7804744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2755-01A-01D-1522-08	TCGA-66-2755-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	177d64a9-65dc-4aa1-8774-bd8208e40f04	4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332	g.chr5:7804743_7804744insT	ENST00000338316.4	+	22	2910_2911	c.2821_2822insT	c.(2821-2823)attfs	p.I941fs	ADCY2_ENST00000537121.1_Frame_Shift_Ins_p.I761fs	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	941					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GATTAAGACCATTGGCAGCACA	0.525																																						uc003jdz.1																			0				ovary(5)|pancreas(1)|skin(1)	7						c.(2821-2823)ATTfs		adenylate cyclase 2																																				SO:0001589	frameshift_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7804743_7804744insT	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2823dupT	5.37:g.7804745_7804745dupT	ENSP00000342952:p.Ile941fs					ADCY2_uc011cmo.1_Frame_Shift_Ins_p.I761fs|ADCY2_uc010itm.1_Frame_Shift_Ins_p.I137fs	p.I941fs	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			22	2888_2889	+			941			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Frame_Shift_Ins	INS	ENST00000338316.4	37	c.2821_2822insT	CCDS3872.2																																																																																					0.525	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		85	46	85	46	---	---	---	---
