#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3519044	3519044	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:3519044C>A	ENST00000356575.4	-	2	478	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	84	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCATGACCCACGCACCACG	0.697																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(250-252)gtG>gtT		multiple EGF-like-domains 6							26.0	33.0	30.0					1																	3519044		2099	4197	6296	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3519044C>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.252G>T	1.37:g.3519044C>A			Somatic					p.V84V	NM_001409.3	NP_001400.3	WXS	Illumina GAIIx	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	2	478	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	84			EMI.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.252G>T	CCDS41237.1																																																																																				0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		5	42	5	42	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:12835281C>A	ENST00000357726.4	+	1	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	91					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTGCCCAGAAGGTTCG	0.597																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(271-273)Cag>Aag		PRAME family member 12							72.0	76.0	74.0					1																	12835281		2199	4300	6499	SO:0001583	missense	390999							g.chr1:12835281C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.271C>A	1.37:g.12835281C>A	ENSP00000350358:p.Gln91Lys		Somatic					p.Q91K	NM_001080830.1	NP_001074299.1	WXS	Illumina GAIIx	Phase_I	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	298	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	91						Missense_Mutation	SNP	ENST00000357726.4	37	c.271C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.731611	0.48939	.	.	ENSG00000116726	ENST00000357726	T	0.16897	2.31	2.68	1.71	0.24356	.	0.480529	0.21252	N	0.077635	T	0.29093	0.0723	M	0.84585	2.705	0.09310	N	0.999998	P	0.40660	0.726	P	0.46026	0.501	T	0.09707	-1.0662	10	0.52906	T	0.07	.	9.409	0.38480	0.0:0.7788:0.2212:0.0	.	91	O95522	PRA12_HUMAN	K	91	ENSP00000350358:Q91K	ENSP00000350358:Q91K	Q	+	1	0	PRAMEF12	12757868	0.037000	0.19845	0.062000	0.19696	0.428000	0.31595	0.751000	0.26348	0.634000	0.30469	0.195000	0.17529	CAG		0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		5	105	5	105	---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55069594	55069594	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55069594G>T	ENST00000371316.3	+	11	1218	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	379	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCCGTCCCCTGGGACCCTAGC	0.582																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1135-1137)tGg>tTg		acyl-CoA thioesterase 11							109.0	98.0	101.0					1																	55069594		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55069594G>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1136G>T	1.37:g.55069594G>T	ENSP00000360366:p.Trp379Leu		Somatic				ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	p.W379L	NM_015547.3	NP_056362.1	WXS	Illumina GAIIx	Phase_I	Q8WXI4	ACO11_HUMAN			11	1218	+			379			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1136G>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063426	0.93898	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	D;D	0.82711	-1.64;-1.64	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.927;0.94	D	0.91704	0.5376	10	0.59425	D	0.04	-13.3954	19.2569	0.93949	0.0:0.0:1.0:0.0	.	379;379	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	379	ENSP00000340260:W379L;ENSP00000360366:W379L	ENSP00000340260:W379L	W	+	2	0	ACOT11	54842182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.995000	0.93534	2.561000	0.86390	0.561000	0.74099	TGG		0.582	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		6	90	6	90	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55280671	55280671	+	Missense_Mutation	SNP	G	G	T	rs376296387		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55280671G>T	ENST00000371273.3	+	8	1024	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	C1orf177_ENST00000358193.3_Missense_Mutation_p.G337W	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	337										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GACCTCCAAGGGGTCAGGTGC	0.552																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(1009-1011)Ggg>Tgg		chromosome 1 open reading frame 177							117.0	123.0	121.0					1																	55280671		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55280671G>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.1009G>T	1.37:g.55280671G>T	ENSP00000360320:p.Gly337Trp		Somatic				C1orf177_ENST00000371273.3_Missense_Mutation_p.G337W	p.G337W	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	Q3ZCV2	CA177_HUMAN			8	1063	+			337					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.1009G>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	3.695	-0.062637	0.07273	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22945	1.93;1.93	4.75	-0.971	0.10303	.	0.088609	0.45606	D	0.000348	T	0.15825	0.0381	N	0.02011	-0.69	0.18873	N	0.999988	D;D	0.57257	0.979;0.979	P;P	0.59115	0.852;0.852	T	0.22765	-1.0207	10	0.56958	D	0.05	-1.7015	8.2726	0.31853	0.55:0.3024:0.1476:0.0	.	337;337	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	W	337	ENSP00000350924:G337W;ENSP00000360320:G337W	ENSP00000350924:G337W	G	+	1	0	C1orf177	55053259	0.896000	0.30565	0.492000	0.27490	0.005000	0.04900	-0.010000	0.12743	0.026000	0.15269	-0.344000	0.07964	GGG		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		7	186	7	186	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85666010	85666010	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:85666010G>T	ENST00000341460.5	-	1	719	c.670C>A	c.(670-672)Cca>Aca	p.P224T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	224					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCCACATTTGGGGAGGCTGCC	0.557																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(670-672)Cca>Aca		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							85.0	92.0	90.0					1																	85666010		1999	4160	6159	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85666010G>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.670C>A	1.37:g.85666010G>T	ENSP00000340594:p.Pro224Thr		Somatic					p.P224T	NM_032184.1	NP_115560.1	WXS	Illumina GAIIx	Phase_I	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	1	719	-			224					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.670C>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526508	0.27299	.	.	ENSG00000097096	ENST00000341460	T	0.07327	3.2	5.44	2.44	0.29823	.	0.760985	0.11954	N	0.513374	T	0.03011	0.0089	M	0.63428	1.95	0.09310	N	1	B;P	0.34724	0.22;0.465	B;B	0.31101	0.086;0.124	T	0.40776	-0.9545	10	0.72032	D	0.01	.	4.9866	0.14192	0.2301:0.2988:0.4711:0.0	.	224;224	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	T	224	ENSP00000340594:P224T	ENSP00000340594:P224T	P	-	1	0	SYDE2	85438598	0.983000	0.35010	0.006000	0.13384	0.411000	0.31082	0.762000	0.26503	0.239000	0.21243	0.561000	0.74099	CCA		0.557	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	133	6	133	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86900283	86900283	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:86900283G>T	ENST00000370565.4	+	6	989	c.827G>T	c.(826-828)tGg>tTg	p.W276L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	276					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGAAGTGCATGGGATGTAATC	0.478																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(826-828)tGg>tTg		chloride channel accessory 2							188.0	164.0	172.0					1																	86900283		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900283G>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.827G>T	1.37:g.86900283G>T	ENSP00000359596:p.Trp276Leu		Somatic					p.W276L	NM_006536.5	NP_006527.1	WXS	Illumina GAIIx	Phase_I	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	989	+		Lung NSC(277;0.238)	276					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.827G>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659609	0.88154	.	.	ENSG00000137975	ENST00000370565	T	0.04317	3.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.91140	3.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.03453	-1.1035	10	0.54805	T	0.06	-6.115	20.4745	0.99168	0.0:0.0:1.0:0.0	.	276	Q9UQC9	CLCA2_HUMAN	L	276	ENSP00000359596:W276L	ENSP00000359596:W276L	W	+	2	0	CLCA2	86672871	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	7.006000	0.76329	2.941000	0.99782	0.655000	0.94253	TGG		0.478	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		5	138	5	138	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(634-636)Aaa>Gaa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							97.0	92.0	94.0					1																	91851252		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851252T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.634A>G	1.37:g.91851252T>C	ENSP00000359454:p.Lys212Glu		Somatic				HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K212E	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	732	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	212					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.634A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.387	1.074579	0.20227	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.60672	0.17;0.56	5.93	4.82	0.62117	.	1.807140	0.06235	U	0.689455	T	0.26629	0.0651	L	0.50333	1.59	0.20196	N	0.999928	P;P	0.48764	0.844;0.915	B;B	0.39465	0.23;0.3	T	0.16041	-1.0416	10	0.06365	T	0.9	.	8.1545	0.31160	0.0:0.1396:0.0:0.8604	.	212;212	B7ZM16;A2PYH4	.;HFM1_HUMAN	E	212;245;71;170	ENSP00000359454:K212E;ENSP00000388900:K170E	ENSP00000359454:K212E	K	-	1	0	HFM1	91623840	0.784000	0.28713	0.058000	0.19502	0.009000	0.06853	1.073000	0.30691	2.281000	0.76405	0.533000	0.62120	AAA		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	43	7	43	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92729219	92729219	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:92729219G>T	ENST00000370360.3	-	15	1451	c.1370C>A	c.(1369-1371)cCa>cAa	p.P457Q	GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	457					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGCACCCTCTGGGAGAAAAAG	0.373									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(1369-1371)cCa>cAa		glomulin, FKBP associated protein							178.0	179.0	179.0					1																	92729219		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92729219G>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1370C>A	1.37:g.92729219G>T	ENSP00000359385:p.Pro457Gln		Somatic				GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	p.P457Q	NM_053274.2	NP_444504.1	WXS	Illumina GAIIx	Phase_I	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	15	1451	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	457					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1370C>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519222	0.85495	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.45276	0.9;0.9	5.88	5.88	0.94601	.	0.049524	0.85682	D	0.000000	T	0.60881	0.2303	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.62576	-0.6825	10	0.87932	D	0	-6.2907	19.2322	0.93845	0.0:0.0:1.0:0.0	.	443;457	B4DJ85;Q92990	.;GLMN_HUMAN	Q	457;443	ENSP00000359385:P457Q;ENSP00000440156:P443Q	ENSP00000359385:P457Q	P	-	2	0	GLMN	92501807	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.627000	0.74258	2.774000	0.95407	0.655000	0.94253	CCA		0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		5	148	5	148	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328017	152328017	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:152328017C>A	ENST00000388718.5	-	3	2317	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	749	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGTCCA	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2245-2247)Ggg>Tgg		filaggrin family member 2							290.0	275.0	280.0					1																	152328017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2245G>T	1.37:g.152328017C>A	ENSP00000373370:p.Gly749Trp		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G749W	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		749			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332893	0.41297	.	.	ENSG00000143520	ENST00000388718	T	0.21543	2.0	5.17	5.17	0.71159	.	.	.	.	.	T	0.30854	0.0778	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07809	-1.0753	9	0.66056	D	0.02	-2.9337	16.1506	0.81618	0.0:1.0:0.0:0.0	.	749	Q5D862	FILA2_HUMAN	W	749	ENSP00000373370:G749W	ENSP00000373370:G749W	G	-	1	0	FLG2	150594641	0.000000	0.05858	0.017000	0.16124	0.012000	0.07955	0.972000	0.29409	2.419000	0.82065	0.609000	0.83330	GGG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	413	8	413	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153744959	153744959	+	5'Flank	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:153744959C>A	ENST00000368661.3	+	0	0				INTS3_ENST00000476843.1_Intron|INTS3_ENST00000512605.1_Missense_Mutation_p.P749H|INTS3_ENST00000318967.2_Intron|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000456435.1_Missense_Mutation_p.P749H|INTS3_ENST00000435409.2_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGTGCTGCCCTGGCCCAGAC	0.597																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2245-2247)cCt>cAt		integrator complex subunit 3							41.0	37.0	38.0					1																	153744959		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153744959C>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153744959C>A	Exception_encountered		Somatic				INTS3_ENST00000476843.1_Intron|INTS3_ENST00000318967.2_Intron|INTS3_ENST00000435409.2_Intron|INTS3_ENST00000512605.1_Missense_Mutation_p.P749H	p.P749H			WXS	Illumina GAIIx	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		27	3432	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		0					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.2246C>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244296	0.39697	.	.	ENSG00000143624	ENST00000456435;ENST00000512605	.	.	.	4.52	3.58	0.41010	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	1	P	0.35872	0.525	B	0.39617	0.305	T	0.05115	-1.0905	6	.	.	.	.	8.6842	0.34227	0.0:0.8927:0.0:0.1073	.	749	Q68E01-3	.	H	749	.	.	P	+	2	0	INTS3	152011583	0.000000	0.05858	0.265000	0.24526	0.021000	0.10359	-0.412000	0.07132	2.342000	0.79632	0.655000	0.94253	CCT		0.597	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		4	29	4	29	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160275314	160275314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:160275314C>A	ENST00000241704.7	-	17	1805	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	526					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGTTCTCATGAATGTTA	0.448																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1576-1578)Gag>Tag		coatomer protein complex, subunit alpha							123.0	116.0	118.0					1																	160275314		2203	4300	6503	SO:0001587	stop_gained	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160275314C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1576G>T	1.37:g.160275314C>A	ENSP00000241704:p.Glu526*		Somatic				COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	p.E526*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	1805	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		526					Q5T201|Q8IXZ9	Nonsense_Mutation	SNP	ENST00000241704.7	37	c.1576G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	39	7.386583	0.98252	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.64	5.64	0.86602	.	0.098474	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6101	16.5532	0.84477	0.0:1.0:0.0:0.0	.	.	.	.	X	535;526	.	ENSP00000241704:E526X	E	-	1	0	COPA	158541938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.231000	0.78106	2.937000	0.99478	0.650000	0.86243	GAG		0.448	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	93	6	93	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197009754	197009754	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:197009754C>A	ENST00000367412.1	-	11	1893	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	617	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGTATCTCCTCTACAAATAAA	0.308																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1849-1851)aGa>aTa		coagulation factor XIII, B polypeptide							72.0	72.0	72.0					1																	197009754		2201	4293	6494	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197009754C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1850G>T	1.37:g.197009754C>A	ENSP00000356382:p.Arg617Ile		Somatic				F13B_ENST00000490002.1_5'UTR	p.R617I	NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	P05160	F13B_HUMAN			11	1893	-			617			Sushi 10.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1850G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761779	0.31228	.	.	ENSG00000143278	ENST00000367412	D	0.83250	-1.7	5.59	-8.23	0.01033	Complement control module (1);	0.559395	0.13654	N	0.372062	T	0.59555	0.2202	N	0.20685	0.6	0.25977	N	0.982429	B	0.29037	0.231	B	0.21546	0.035	T	0.48068	-0.9067	10	0.72032	D	0.01	.	2.9786	0.05946	0.0886:0.2299:0.1955:0.486	.	617	P05160	F13B_HUMAN	I	617	ENSP00000356382:R617I	ENSP00000356382:R617I	R	-	2	0	F13B	195276377	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	-0.161000	0.10026	-1.808000	0.01234	-0.150000	0.13652	AGA		0.308	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		5	55	5	55	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(736-738)Ttt>Att		CD46 molecule, complement regulatory protein							71.0	72.0	72.0					1																	207940420		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940420T>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.736T>A	1.37:g.207940420T>A	ENSP00000350893:p.Phe246Ile		Somatic				CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I	p.F246I	NM_002389.4	NP_002380.3	WXS	Illumina GAIIx	Phase_I	P15529	MCP_HUMAN			6	892	+			246			Sushi 4.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.736T>A	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928559	0.73327	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.14	2.87	0.33458	Complement control module (2);Sushi/SCR/CCP (3);	1.180340	0.06338	N	0.707414	D	0.82701	0.5094	M	0.86502	2.82	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998;0.997;0.999;1.0;0.999;1.0;0.999;0.996;0.996;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.958;0.977;0.985;0.942;0.991;0.99;0.986;0.985;0.999;0.985;0.987;0.987;0.995	T	0.60177	-0.7314	10	0.87932	D	0	.	5.9807	0.19405	0.0:0.1973:0.0:0.8027	.	246;246;246;246;246;246;246;246;246;246;246;246;246;246	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	I	246;246;246;246;246;246;246;183;246;246;246;246	ENSP00000350893:F246I;ENSP00000346912:F246I;ENSP00000314664:F246I;ENSP00000356009:F246I;ENSP00000356008:F246I;ENSP00000350346:F246I;ENSP00000313875:F246I;ENSP00000356014:F183I;ENSP00000413543:F246I;ENSP00000354358:F246I;ENSP00000353342:F246I;ENSP00000418471:F246I	ENSP00000313875:F246I	F	+	1	0	CD46	206007043	0.001000	0.12720	0.001000	0.08648	0.287000	0.27160	0.935000	0.28924	1.089000	0.41292	0.533000	0.62120	TTT		0.378	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		10	45	10	45	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228492955	228492955	+	Intron	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:228492955G>T	ENST00000422127.1	+	44	11703				OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.G4800W|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1477W|OBSCN_ENST00000284548.11_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTCAGAGATGGGGACAGATA	0.562																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(14398-14400)Ggg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							242.0	203.0	215.0					1																	228492955		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228492955G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-1118G>T	1.37:g.228492955G>T			Somatic				OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1477W	p.G4800W	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			54	14472	+		Prostate(94;0.0405)	3843					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14398G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534464	0.45073	.	.	ENSG00000154358	ENST00000366707	T	0.72282	-0.64	4.56	2.53	0.30540	.	.	.	.	.	T	0.73953	0.3653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74041	-0.3792	6	0.56958	D	0.05	.	8.8764	0.35348	0.2609:0.0:0.7391:0.0	.	.	.	.	W	1477	ENSP00000355668:G1477W	ENSP00000355668:G1477W	G	+	1	0	OBSCN	226559578	0.999000	0.42202	0.149000	0.22428	0.179000	0.23085	2.877000	0.48506	1.140000	0.42260	0.491000	0.48974	GGG		0.562	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	132	5	132	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74719548	74719548	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:74719548G>T	ENST00000233623.5	+	11	1144	c.1137G>T	c.(1135-1137)ctG>ctT	p.L379L	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	379										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTCCGCCTGGGCAAGGCCT	0.617																																						ENST00000233623.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(1135-1137)ctG>ctT		tetratricopeptide repeat domain 31							46.0	45.0	45.0					2																	74719548		1854	4090	5944	SO:0001819	synonymous_variant	64427						binding	g.chr2:74719548G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1137G>T	2.37:g.74719548G>T			Somatic				TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	p.L379L	NM_022492.4	NP_071937.4	WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			11	1144	+			379					Q4KN40|Q53FD4|Q9H9F7	Silent	SNP	ENST00000233623.5	37	c.1137G>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	8.706	0.911006	0.17833	.	.	ENSG00000115282	ENST00000414247	.	.	.	4.2	1.12	0.20585	.	.	.	.	.	T	0.45975	0.1369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	.	4.0024	0.09585	0.2271:0.1978:0.575:0.0	.	.	.	.	L	117	.	.	W	+	2	0	TTC31	74573056	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.523000	0.35932	0.367000	0.24454	0.561000	0.74099	TGG		0.617	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		5	92	5	92	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425739	88425739	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:88425739C>A	ENST00000295834.3	-	2	294	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FABP1_ENST00000393750.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	66					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCCTCCCCCACCGTGAAT	0.532																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(196-198)Ggg>Tgg		fatty acid binding protein 1, liver							312.0	265.0	281.0					2																	88425739		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88425739C>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.196G>T	2.37:g.88425739C>A	ENSP00000295834:p.Gly66Trp		Somatic				FABP1_ENST00000295834.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR	p.G66W			WXS	Illumina GAIIx	Phase_I	P07148	FABPL_HUMAN			2	227	-			66						Missense_Mutation	SNP	ENST00000295834.3	37	c.196G>T	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268242	0.59540	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.70986	-0.53;-0.53	5.81	5.81	0.92471	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.90870	3.155	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89921	0.4059	10	0.87932	D	0	.	18.7029	0.91627	0.0:1.0:0.0:0.0	.	66;66	A8MW49;P07148	.;FABPL_HUMAN	W	66	ENSP00000295834:G66W;ENSP00000377351:G66W	ENSP00000295834:G66W	G	-	1	0	FABP1	88206854	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.094000	0.76944	2.765000	0.95021	0.558000	0.71614	GGG		0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		8	244	8	244	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1234-1236)gaC>gaG		LON peptidase N-terminal domain and ring finger 2							87.0	85.0	86.0					2																	100916210		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916210G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1236C>G	2.37:g.100916210G>C	ENSP00000377086:p.Asp412Glu		Somatic				LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	p.D412E	NM_198461.3	NP_940863.3	WXS	Illumina GAIIx	Phase_I	Q1L5Z9	LONF2_HUMAN			5	1875	-			412					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1236C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609926	0.14066	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84730	-1.7;-1.89	4.49	-1.58	0.08479	.	1.404240	0.04235	N	0.335975	T	0.75102	0.3804	L	0.47716	1.5	0.09310	N	1	B	0.25563	0.129	B	0.20184	0.028	T	0.58200	-0.7678	10	0.02654	T	1	-12.1851	5.5035	0.16840	0.3434:0.0:0.4834:0.1731	.	412	Q1L5Z9	LONF2_HUMAN	E	412;169	ENSP00000377086:D412E;ENSP00000386823:D169E	ENSP00000377086:D412E	D	-	3	2	LONRF2	100282642	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.298000	0.08265	-0.227000	0.09884	0.555000	0.69702	GAC		0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		9	94	9	94	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2845-2847)Gga>Aga		WD repeat domain 33							41.0	39.0	40.0					2																	128474753		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128474753C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2845G>A	2.37:g.128474753C>T	ENSP00000325377:p.Gly949Arg		Somatic					p.G949R	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3003	-	Colorectal(110;0.1)		949					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2845G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390292	0.62066	.	.	ENSG00000136709	ENST00000322313	D	0.89617	-2.54	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000024	D	0.86768	0.6012	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83639	0.0149	10	0.13853	T	0.58	-10.4583	14.3903	0.66973	0.0:1.0:0.0:0.0	.	949	Q9C0J8	WDR33_HUMAN	R	949	ENSP00000325377:G949R	ENSP00000325377:G949R	G	-	1	0	WDR33	128191223	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.473000	0.83533	0.563000	0.77884	GGA		0.478	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	3	19	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			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						GAAATCACGGAGGTTGAACAA	0.398																																						ENST00000312428.6																			0				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						c.(6538-6540)cTc>cGc		dynein, axonemal, heavy chain 7							169.0	156.0	160.0					2																	196737068		1863	4099	5962	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737068A>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6539T>G	2.37:g.196737068A>C	ENSP00000311273:p.Leu2180Arg		Somatic					p.L2180R	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			40	6639	-			2180			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6539T>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339614	0.81911	.	.	ENSG00000118997	ENST00000312428	T	0.53423	0.62	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89953	0.4081	10	0.87932	D	0	.	13.973	0.64252	1.0:0.0:0.0:0.0	.	2180	Q8WXX0	DYH7_HUMAN	R	2180	ENSP00000311273:L2180R	ENSP00000311273:L2180R	L	-	2	0	DNAH7	196445313	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.010000	0.93611	2.029000	0.59856	0.528000	0.53228	CTC		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	96	3	96	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882928	228882928	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:228882928G>T	ENST00000392056.3	-	7	2688	c.2642C>A	c.(2641-2643)cCa>cAa	p.P881Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	881						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P881Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGGTGTTTGGGTGGATACT	0.522																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.P881Q(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2641-2643)cCa>cAa		SPHK1 interactor, AKAP domain containing							464.0	445.0	451.0					2																	228882928		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882928G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2642C>A	2.37:g.228882928G>T	ENSP00000375909:p.Pro881Gln		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	p.P881Q	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2688	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	881					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2642C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310797	0.10733	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11385	2.78;2.78	5.85	3.03	0.35002	.	1.163830	0.05951	N	0.638798	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	1	B;P	0.48503	0.117;0.911	B;B	0.42282	0.013;0.382	T	0.29518	-1.0009	10	0.30078	T	0.28	.	6.0211	0.19630	0.2065:0.0:0.6603:0.1333	.	881;881	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	881	ENSP00000375909:P881Q;ENSP00000339886:P881Q	ENSP00000339886:P881Q	P	-	2	0	SPHKAP	228591172	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	0.507000	0.22675	0.459000	0.27016	0.655000	0.94253	CCA		0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		8	200	8	200	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242147077	242147077	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:242147077C>A	ENST00000274979.8	+	11	1334	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	411					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCCTGTGCCCTGGCCCAGGT	0.617																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1231-1233)Ctg>Atg		anoctamin 7							82.0	79.0	80.0					2																	242147077		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242147077C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1231C>A	2.37:g.242147077C>A	ENSP00000274979:p.Leu411Met		Somatic				ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	p.L411M	NM_001001891.3	NP_001001891.2	WXS	Illumina GAIIx	Phase_I	Q6IWH7	ANO7_HUMAN			11	1334	+			411					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1231C>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.120809	0.01785	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.70869	-0.41;-0.52	2.49	0.251	0.15540	.	1.458300	0.04835	U	0.439461	T	0.48607	0.1509	N	0.17278	0.47	0.18873	N	0.999987	B	0.29232	0.238	B	0.24006	0.05	T	0.36114	-0.9761	10	0.33141	T	0.24	.	0.9839	0.01442	0.3429:0.335:0.1806:0.1414	.	411	Q6IWH7	ANO7_HUMAN	M	411;410	ENSP00000274979:L411M;ENSP00000385418:L410M	ENSP00000274979:L411M	L	+	1	2	ANO7	241795750	0.601000	0.26907	0.361000	0.25849	0.123000	0.20343	1.011000	0.29911	0.329000	0.23460	-0.671000	0.03813	CTG		0.617	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		5	110	5	110	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10976882	10976882	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:10976882C>A	ENST00000254488.2	+	13	1809	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	581					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P581P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGACACTGCCCGAGGTGAGAC	0.652																																						ENST00000254488.2																			1	Substitution - coding silent(1)	p.P581P(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1741-1743)ccC>ccA		solute carrier family 6 (neurotransmitter transporter), member 11							94.0	91.0	92.0					3																	10976882		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976882C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1743C>A	3.37:g.10976882C>A			Somatic					p.P581P	NM_014229.1	NP_055044.1	WXS	Illumina GAIIx	Phase_I	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1809	+			581					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1743C>A	CCDS2602.1																																																																																				0.652	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		5	121	5	121	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458																																						ENST00000311806.3																			0				skin(1)	1						c.(1429-1431)Agg>Ggg		oxidative stress responsive 1							299.0	271.0	280.0					3																	38292947		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292947A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1429A>G	3.37:g.38292947A>G	ENSP00000311713:p.Arg477Gly		Somatic					p.R477G	NM_005109.2	NP_005100.1	WXS	Illumina GAIIx	Phase_I	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1801	+			477						Missense_Mutation	SNP	ENST00000311806.3	37	c.1429A>G	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854670	0.51376	.	.	ENSG00000172939	ENST00000311806	T	0.72282	-0.64	5.61	3.01	0.34805	.	0.040777	0.85682	D	0.000000	T	0.61286	0.2335	L	0.39898	1.24	0.58432	D	0.999999	B	0.30326	0.276	B	0.35278	0.199	T	0.56414	-0.7983	10	0.30078	T	0.28	-17.177	10.6357	0.45563	0.6924:0.3075:0.0:0.0	.	477	O95747	OXSR1_HUMAN	G	477	ENSP00000311713:R477G	ENSP00000311713:R477G	R	+	1	2	OXSR1	38267951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.025000	0.39708	0.528000	0.53228	AGG		0.458	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		6	230	6	230	---	---	---	---
CYB561D2	11068	broad.mit.edu	37	3	50391102	50391102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:50391102C>A	ENST00000418577.1	+	3	1172	c.596C>A	c.(595-597)cCt>cAt	p.P199H	NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	199	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTATTATGCCCTGTCCTCACC	0.567																																						ENST00000418577.1																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(595-597)cCt>cAt		cytochrome b561 family, member D2							110.0	106.0	107.0					3																	50391102		2203	4300	6503	SO:0001583	missense	11068				electron transport chain|transport	integral to membrane	metal ion binding	g.chr3:50391102C>A	AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.596C>A	3.37:g.50391102C>A	ENSP00000391209:p.Pro199His		Somatic				CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H	p.P199H			WXS	Illumina GAIIx	Phase_I	O14569	C56D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1172	+			199			Cytochrome b561.		A8K552	Missense_Mutation	SNP	ENST00000418577.1	37	c.596C>A	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012723	0.75161	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.58	5.58	0.84498	Cytochrome b561/ferric reductase transmembrane (1);	0.099128	0.64402	D	0.000001	T	0.78610	0.4310	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.80457	-0.1374	9	0.72032	D	0.01	.	19.1701	0.93574	0.0:1.0:0.0:0.0	.	199	O14569	C56D2_HUMAN	H	199	.	ENSP00000232508:P199H	P	+	2	0	CYB561D2	50366106	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.940000	0.63533	2.641000	0.89580	0.561000	0.74099	CCT		0.567	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1	NM_007022		5	129	5	129	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113338551	113338551	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:113338551G>T	ENST00000264852.4	+	21	2794	c.2068G>T	c.(2068-2070)Ggg>Tgg	p.G690W	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	690					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCTGGTTGTGGGGAATCTGGT	0.383																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2068-2070)Ggg>Tgg		SID1 transmembrane family, member 1							429.0	399.0	409.0					3																	113338551		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113338551G>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2068G>T	3.37:g.113338551G>T	ENSP00000264852:p.Gly690Trp		Somatic				SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W|SIDT1_ENST00000463226.1_3'UTR	p.G690W	NM_017699.2	NP_060169.2	WXS	Illumina GAIIx	Phase_I	Q9NXL6	SIDT1_HUMAN			21	2794	+			690					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2068G>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970501	0.92919	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.17213	2.29;2.32	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.49064	0.1535	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.40496	-0.9560	10	0.54805	T	0.06	-14.1183	20.4745	0.99168	0.0:0.0:1.0:0.0	.	695;690	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	690;695	ENSP00000264852:G690W;ENSP00000377416:G695W	ENSP00000264852:G690W	G	+	1	0	SIDT1	114821241	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GGG		0.383	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		8	323	8	323	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123333147	123333147	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:123333147C>A	ENST00000475616.1	-	31	5549	c.5550G>T	c.(5548-5550)agG>agT	p.R1850S	MYLK_ENST00000360772.3_Missense_Mutation_p.R1799S|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S			Q15746	MYLK_HUMAN	myosin light chain kinase	1850	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCGGGACTCCCTGATTGACT	0.483																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5395-5397)agG>agT		myosin light chain kinase							105.0	105.0	105.0					3																	123333147		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333147C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5550G>T	3.37:g.123333147C>A	ENSP00000418335:p.Arg1850Ser		Somatic				MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK_ENST00000475616.1_Missense_Mutation_p.R1850S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S	p.R1799S			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5775	-		Lung NSC(201;0.0496)	1850					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5397G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158363	0.38119	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.27	3.46	0.39613	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58409	0.2120	N	0.04805	-0.155	0.41481	D	0.988165	P;P;P;P;P;B	0.50369	0.837;0.934;0.837;0.876;0.866;0.05	P;P;P;P;P;B	0.59115	0.562;0.852;0.562;0.755;0.689;0.006	T	0.62224	-0.6899	9	0.46703	T	0.11	.	10.295	0.43618	0.0:0.846:0.0:0.154	.	1849;1730;1799;1781;1850;162	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	S	1799;1850;1799;90;1781;650;1850	ENSP00000354004:R1799S;ENSP00000353452:R1850S;ENSP00000352088:R1799S;ENSP00000428967:R90S;ENSP00000320622:R1781S;ENSP00000346846:R650S;ENSP00000418335:R1850S	ENSP00000320622:R1781S	R	-	3	2	MYLK	124815837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.045000	0.30341	1.452000	0.47756	0.650000	0.86243	AGG		0.483	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	81	6	81	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124896676	124896676	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:124896676C>A	ENST00000393469.4	-	4	582	c.533G>T	c.(532-534)tGg>tTg	p.W178L	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.W207L|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	178					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GCGGATTATCCATTTGACACC	0.557																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(619-621)tGg>tTg		solute carrier family 12, member 8							73.0	84.0	80.0					3																	124896676		2078	4220	6298	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124896676C>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.533G>T	3.37:g.124896676C>A	ENSP00000377112:p.Trp178Leu		Somatic				SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W178L	p.W207L			WXS	Illumina GAIIx	Phase_I	A0AV02	S12A8_HUMAN			5	619	-			178					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.620G>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.788187	0.90367	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902	D;D;D	0.98602	-5.02;-5.02;-5.02	5.5	5.5	0.81552	Amino acid permease domain (1);	.	.	.	.	D	0.98532	0.9510	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99818	1.1045	9	0.62326	D	0.03	.	17.5864	0.87982	0.0:1.0:0.0:0.0	.	70;207;178	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	L	178;207;178	ENSP00000377112:W178L;ENSP00000404243:W207L;ENSP00000418783:W178L	ENSP00000377112:W178L	W	-	2	0	SLC12A8	126379366	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.467000	0.80930	2.599000	0.87857	0.448000	0.29417	TGG		0.557	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		4	48	4	48	---	---	---	---
TF	7018	broad.mit.edu	37	3	133489392	133489392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:133489392C>A	ENST00000402696.3	+	14	2148	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	TF_ENST00000264998.3_Missense_Mutation_p.Q428K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	555	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TGTGAAACACCAGACTGTCCC	0.507																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1663-1665)Cag>Aag		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						190.0	174.0	179.0					3																	133489392		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133489392C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1663C>A	3.37:g.133489392C>A	ENSP00000385834:p.Gln555Lys		Somatic				TF_ENST00000264998.3_Missense_Mutation_p.Q428K	p.Q555K	NM_001063.3	NP_001054	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			14	2148	+			555			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1663C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446910	0.25987	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.31510	1.49;1.49	4.77	-0.909	0.10514	.	0.836779	0.10529	N	0.664120	T	0.31575	0.0801	M	0.73598	2.24	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40117	-0.9580	10	0.72032	D	0.01	-1.1922	8.1138	0.30930	0.419:0.2367:0.3442:0.0	.	555	P02787	TRFE_HUMAN	K	555;428	ENSP00000385834:Q555K;ENSP00000264998:Q428K	ENSP00000264998:Q428K	Q	+	1	0	TF	134972082	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.270000	0.18607	0.006000	0.14734	-0.300000	0.09419	CAG		0.507	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		6	192	6	192	---	---	---	---
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2815-2817)tcT>tcC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						130.0	121.0	124.0					3																	148896263		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148896263A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2817T>C	3.37:g.148896263A>G			Somatic					p.S939S	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3079	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	939			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2817T>C	CCDS3141.1																																																																																				0.323	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	94	6	94	---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186790707	186790707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:186790707C>A	ENST00000169298.3	+	6	1450	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	259					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTATGGGACCCATCTGTATAC	0.443																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(775-777)cCa>cAa		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							121.0	119.0	119.0					3																	186790707		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186790707C>A	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.776C>A	3.37:g.186790707C>A	ENSP00000169298:p.Pro259Gln		Somatic				ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q	p.P259Q	NM_173216.2	NP_775323.1	WXS	Illumina GAIIx	Phase_I	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	6	1450	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		259					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.776C>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739035	0.69304	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000427315;ENST00000448044;ENST00000442023	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.84219	2.685	0.58432	D	0.999993	D	0.61697	0.99	D	0.66084	0.941	T	0.59568	-0.7430	10	0.66056	D	0.02	-21.4503	13.0094	0.58724	0.0:1.0:0.0:0.0	.	259	P15907	SIAT1_HUMAN	Q	259;28;28;259;28	ENSP00000169298:P259Q;ENSP00000412221:P28Q;ENSP00000389337:P259Q;ENSP00000403063:P28Q	ENSP00000169298:P259Q	P	+	2	0	ST6GAL1	188273401	1.000000	0.71417	0.983000	0.44433	0.942000	0.58702	5.602000	0.67612	2.797000	0.96272	0.561000	0.74099	CCA		0.443	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	116	5	116	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195594757	195594757	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:195594757C>A	ENST00000333602.6	-	12	2984	c.2367G>T	c.(2365-2367)tcG>tcT	p.S789S	TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	789	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGGTGTCCTCGAGCCTTGAG	0.706																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2365-2367)tcG>tcT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						8.0	12.0	11.0					3																	195594757		2139	4186	6325	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594757C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2367G>T	3.37:g.195594757C>A			Somatic				TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	p.S789S	NM_005781.4	NP_005772.3	WXS	Illumina GAIIx	Phase_I	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2984	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	789	Missing (in Ref. 4; AAH08884).		EBD domain (By similarity).|Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.2367G>T	CCDS33928.1																																																																																				0.706	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	46	4	46	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056217	7056217	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7056217G>T	ENST00000310074.7	+	2	888	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TADA2B_ENST00000515646.1_Silent_p.L141L|TADA2B_ENST00000512388.1_Silent_p.L158L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	233					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAGCCTTCCTGGGGAAGGACA	0.577																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(697-699)ctG>ctT		transcriptional adaptor 2B							68.0	75.0	72.0					4																	7056217		2040	4202	6242	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056217G>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.699G>T	4.37:g.7056217G>T			Somatic				TADA2B_ENST00000512388.1_Silent_p.L158L|TADA2B_ENST00000515646.1_Silent_p.L141L	p.L233L	NM_152293.2	NP_689506.2	WXS	Illumina GAIIx	Phase_I	Q86TJ2	TAD2B_HUMAN			2	888	+			233					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.699G>T	CCDS47007.1																																																																																				0.577	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		5	99	5	99	---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1384-1386)gAt>gTt		sortilin-related VPS10 domain containing receptor 2							97.0	90.0	92.0					4																	7684513		1881	4114	5995	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7684513A>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1385A>T	4.37:g.7684513A>T	ENSP00000422185:p.Asp462Val		Somatic				SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	p.D462V	NM_020777.2	NP_065828.2	WXS	Illumina GAIIx	Phase_I	Q96PQ0	SORC2_HUMAN			10	1494	+			462					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1385A>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808692	0.70797	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.43688	0.94;0.94	4.59	4.59	0.56863	VPS10 (1);	0.139284	0.24165	U	0.040947	T	0.64605	0.2613	M	0.85041	2.73	0.80722	D	1	P;D	0.64830	0.955;0.994	P;P	0.61070	0.754;0.883	T	0.72174	-0.4370	10	0.87932	D	0	.	14.14	0.65313	1.0:0.0:0.0:0.0	.	290;462	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	462;290	ENSP00000422185:D462V;ENSP00000329124:D290V	ENSP00000329124:D290V	D	+	2	0	SORCS2	7735413	1.000000	0.71417	0.204000	0.23530	0.797000	0.45037	7.912000	0.87465	1.921000	0.55644	0.460000	0.39030	GAT		0.468	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	25	7	25	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8221138	8221138	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:8221138C>A	ENST00000245105.3	+	9	1060	c.993C>A	c.(991-993)ctC>ctA	p.L331L	SH3TC1_ENST00000539824.1_Silent_p.L255L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	331	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTGGCGACCTCATCGAGATCC	0.672																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(763-765)ctC>ctA		SH3 domain and tetratricopeptide repeats 1							50.0	55.0	53.0					4																	8221138		2202	4300	6502	SO:0001819	synonymous_variant	54436						binding	g.chr4:8221138C>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.993C>A	4.37:g.8221138C>A			Somatic				SH3TC1_ENST00000245105.3_Silent_p.L331L	p.L255L			WXS	Illumina GAIIx	Phase_I	Q8TE82	S3TC1_HUMAN			9	1139	+			331					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.765C>A	CCDS3399.1																																																																																				0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	76	5	76	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581					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)			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						CAGTGCCAATAATTATGAGTT	0.358																																						ENST00000261435.6																			0				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						c.(1741-1743)atA>atG		NEDD4 binding protein 2							118.0	109.0	112.0					4																	40119567		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119567A>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.1743A>G	4.37:g.40119567A>G	ENSP00000261435:p.Ile581Met		Somatic					p.I581M	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			8	2159	+			581					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1743A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.07|11.07	1.529178|1.529178	0.27387|0.27387	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18960|.	2.18|.	5.44|5.44	-0.577|-0.577	0.11727|0.11727	.|.	0.351137|.	0.31268|.	N|.	0.007941|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.38175|0.38175	1.15|1.15	0.22156|0.22156	N|N	0.999321|0.999321	D;D|.	0.71674|.	0.998;0.996|.	P;P|.	0.62560|.	0.904;0.804|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.56958|.	D|.	0.05|.	-19.1776|-19.1776	5.6704|5.6704	0.17719|0.17719	0.4276:0.4097:0.0673:0.0954|0.4276:0.4097:0.0673:0.0954	.|.	581;581|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	M|D	581;501|228	ENSP00000261435:I581M|.	ENSP00000261435:I581M|.	I|N	+|+	3|1	3|0	N4BP2|N4BP2	39795962|39795962	0.992000|0.992000	0.36948|0.36948	0.998000|0.998000	0.56505|0.56505	0.272000|0.272000	0.26649|0.26649	0.583000|0.583000	0.23849|0.23849	0.039000|0.039000	0.15632|0.15632	-2.545000|-2.545000	0.00179|0.00179	ATA|AAT		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		17	51	17	51	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47538468	47538468	+	Missense_Mutation	SNP	C	C	A	rs139274170	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:47538468C>A	ENST00000273859.3	+	8	1299	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	344					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGAATCTGGCTGAGCAGGTA	0.363																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1030-1032)Ctg>Atg		ATPase, class V, type 10D							216.0	217.0	217.0					4																	47538468		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538468C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1030C>A	4.37:g.47538468C>A	ENSP00000273859:p.Leu344Met		Somatic				ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	p.L344M	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	Q9P241	AT10D_HUMAN			8	1299	+			344					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1030C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.000585	0.35320	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;D	0.89415	0.44;-2.51	5.46	-2.5	0.06384	ATPase, P-type, ATPase-associated domain (1);	0.403281	0.23226	N	0.050513	D	0.83982	0.5372	L	0.43701	1.375	0.34367	D	0.691619	B;B	0.34290	0.447;0.389	B;B	0.42959	0.403;0.403	T	0.78458	-0.2196	10	0.44086	T	0.13	-12.872	7.3857	0.26880	0.1133:0.4264:0.0:0.4603	.	344;344	Q9P241;Q6PEW3	AT10D_HUMAN;.	M	344	ENSP00000273859:L344M;ENSP00000420909:L344M	ENSP00000273859:L344M	L	+	1	2	ATP10D	47233225	0.002000	0.14202	0.990000	0.47175	0.768000	0.43524	-1.457000	0.02374	-0.430000	0.07318	-0.285000	0.09966	CTG		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		7	198	7	198	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55961098	55961098	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:55961098C>A	ENST00000263923.4	-	21	3137	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	948	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTCTTTCCCTTGACGGAAT	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2842-2844)Ggg>Tgg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	85.0	88.0					4																	55961098		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961098C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2842G>T	4.37:g.55961098C>A	ENSP00000263923:p.Gly948Trp	TSP Lung(20;0.16)	Somatic					p.G948W	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3137	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		948			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2842G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676051	0.47886	.	.	ENSG00000128052	ENST00000263923	T	0.77358	-1.09	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.301012	0.36034	N	0.002840	D	0.82268	0.5000	L	0.39898	1.24	0.43457	D	0.995659	D	0.71674	0.998	D	0.68353	0.957	T	0.82155	-0.0597	10	0.52906	T	0.07	.	13.412	0.60948	0.0:0.9284:0.0:0.0716	.	948	P35968	VGFR2_HUMAN	W	948	ENSP00000263923:G948W	ENSP00000263923:G948W	G	-	1	0	KDR	55655855	0.077000	0.21312	0.991000	0.47740	0.302000	0.27658	2.326000	0.43849	2.780000	0.95670	0.655000	0.94253	GGG		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			6	86	6	86	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88957413	88957413	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:88957413C>A	ENST00000237596.2	+	3	817	c.751C>A	c.(751-753)Cgg>Agg	p.R251R		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R251R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTACTACACCCGGATGATGTC	0.478																																						ENST00000237596.2																			1	Substitution - coding silent(1)	p.R251R(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(751-753)Cgg>Agg		polycystic kidney disease 2 (autosomal dominant)							166.0	156.0	159.0					4																	88957413		2203	4300	6503	SO:0001819	synonymous_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88957413C>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.751C>A	4.37:g.88957413C>A			Somatic					p.R251R	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	3	817	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	251					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	c.751C>A	CCDS3627.1																																																																																				0.478	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		5	132	5	132	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:158254059G>T	ENST00000264426.9	+	7	1250	c.971G>T	c.(970-972)aGg>aTg	p.R324M	GRIA2_ENST00000296526.7_Missense_Mutation_p.R324M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M|GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCTCCCGAAGGGGGAATGCA	0.483																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(970-972)aGg>aTg		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						68.0	75.0	73.0					4																	158254059		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254059G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.971G>T	4.37:g.158254059G>T	ENSP00000264426:p.Arg324Met		Somatic				GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M	p.R324M	NM_000826.3	NP_000817	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1296	+	all_hematologic(180;0.24)	Renal(120;0.0458)	324					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.971G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417982	0.62622	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.76574	2.34	0.80722	D	1	P;D;P	0.58268	0.759;0.982;0.686	B;P;B	0.46237	0.308;0.508;0.375	D	0.88294	0.2945	10	0.66056	D	0.02	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	324;324;277	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	M	277;277;324;324;277	ENSP00000426845:R277M;ENSP00000377403:R277M;ENSP00000296526:R324M;ENSP00000264426:R324M;ENSP00000389837:R277M	ENSP00000264426:R324M	R	+	2	0	GRIA2	158473509	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	6.820000	0.75267	2.341000	0.79615	0.557000	0.71058	AGG		0.483	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			5	77	5	77	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2665-2667)atT>atG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							104.0	101.0	102.0					4																	169337892		1843	4122	5965	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169337892A>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2667T>G	4.37:g.169337892A>C	ENSP00000422423:p.Ile889Met		Somatic				DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M|DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M	p.I889M			WXS	Illumina GAIIx	Phase_I	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	20	2914	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	889			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2667T>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.709175	0.00712	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.71579	-0.58;-0.58;1.03;1.03	3.23	1.39	0.22231	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.364605	0.19473	N	0.113381	T	0.27798	0.0684	N	0.00608	-1.33	0.22710	N	0.998821	B;B;B	0.16166	0.016;0.009;0.016	B;B;B	0.10450	0.005;0.005;0.005	T	0.37641	-0.9697	10	0.02654	T	1	.	3.9394	0.09319	0.1966:0.5793:0.0:0.2241	.	889;889;889	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	889;889;889;585	ENSP00000260184:I889M;ENSP00000422423:I889M;ENSP00000422202:I889M;ENSP00000421026:I585M	ENSP00000260184:I889M	I	-	3	3	DDX60L	169574467	0.999000	0.42202	0.265000	0.24526	0.846000	0.48090	0.327000	0.19663	0.034000	0.15491	-0.662000	0.03851	ATT		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	84	15	84	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	ENST00000274181.7	+	5	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	256					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(766-768)atG>atA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							177.0	175.0	176.0					5																	5186169		1961	4162	6123	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186169G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.768G>A	5.37:g.5186169G>A	ENSP00000274181:p.Met256Ile		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	p.M256I	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			5	906	+			256					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.768G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375721	0.24857	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.21;0.11	5.37	5.37	0.77165	.	0.047371	0.85682	D	0.000000	T	0.50718	0.1632	L	0.50333	1.59	0.48341	D	0.999633	B;B;B	0.22276	0.067;0.011;0.007	B;B;B	0.14023	0.008;0.01;0.004	T	0.46331	-0.9199	10	0.36615	T	0.2	.	12.9388	0.58331	0.0:0.0:0.8378:0.1622	.	256;256;256	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	256	ENSP00000274181:M256I;ENSP00000421631:M256I	ENSP00000274181:M256I	M	+	3	0	ADAMTS16	5239169	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	0.943000	0.29030	2.512000	0.84698	0.655000	0.94253	ATG		0.468	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		37	190	37	190	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38523567	38523567	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:38523567C>A	ENST00000263409.4	-	5	677	c.515G>T	c.(514-516)tGg>tTg	p.W172L	LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	172					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTAATTTCCCAGATAACATT	0.348			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(514-516)tGg>tTg		leukemia inhibitory factor receptor alpha							89.0	97.0	94.0					5																	38523567		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38523567C>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.515G>T	5.37:g.38523567C>A	ENSP00000263409:p.Trp172Leu		Somatic				LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	p.W172L	NM_002310.5	NP_002301.1	WXS	Illumina GAIIx	Phase_I	P42702	LIFR_HUMAN			5	677	-	all_lung(31;0.00021)		172					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.515G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215547	0.79352	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.28069	1.63;1.63	5.53	5.53	0.82687	Immunoglobulin-like fold (1);	0.412872	0.30658	N	0.009144	T	0.53061	0.1773	M	0.69823	2.125	0.46631	D	0.999137	D	0.76494	0.999	D	0.65443	0.935	T	0.53194	-0.8473	10	0.54805	T	0.06	-8.4622	14.9587	0.71138	0.0:1.0:0.0:0.0	.	172	P42702	LIFR_HUMAN	L	172	ENSP00000263409:W172L;ENSP00000398368:W172L	ENSP00000263409:W172L	W	-	2	0	LIFR	38559324	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.097000	0.57741	2.579000	0.87056	0.655000	0.94253	TGG		0.348	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		5	102	5	102	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814500	53814500	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:53814500G>T	ENST00000326277.3	+	1	908	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	SNX18_ENST00000381410.4_Missense_Mutation_p.G240W|SNX18_ENST00000343017.6_Missense_Mutation_p.G240W	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	240					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAAGTCCGGCGGGGAGGCCTT	0.701																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(718-720)Ggg>Tgg		sorting nexin 18							47.0	56.0	53.0					5																	53814500		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814500G>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.718G>T	5.37:g.53814500G>T	ENSP00000317332:p.Gly240Trp		Somatic				SNX18_ENST00000326277.3_Missense_Mutation_p.G240W|SNX18_ENST00000381410.4_Missense_Mutation_p.G240W	p.G240W	NM_001145427.1	NP_001138899.1	WXS	Illumina GAIIx	Phase_I	Q96RF0	SNX18_HUMAN			1	912	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	240					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.718G>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074353	0.76415	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.15139	2.64;2.45;2.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.09058	-1.0692	10	0.66056	D	0.02	-26.2132	17.4283	0.87532	0.0:0.0:1.0:0.0	.	240;240	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	W	240	ENSP00000342276:G240W;ENSP00000370817:G240W;ENSP00000317332:G240W	ENSP00000317332:G240W	G	+	1	0	SNX18	53850257	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.617000	0.98361	2.428000	0.82296	0.557000	0.71058	GGG		0.701	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			5	112	5	112	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79034560	79034560	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:79034560C>A	ENST00000446378.2	+	2	10003	c.9972C>A	c.(9970-9972)ccC>ccA	p.P3324P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3324					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGCTCCCATCACAGAGG	0.493																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(9970-9972)ccC>ccA		cardiomyopathy associated 5							87.0	89.0	88.0					5																	79034560		2073	4208	6281	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79034560C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9972C>A	5.37:g.79034560C>A			Somatic					p.P3324P	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10003	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3324					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.9972C>A	CCDS47238.1																																																																																				0.493	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	85	5	85	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140201750	140201750	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140201750C>A	ENST00000529859.1	+	1	390	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCCGCCCAGGTTCTCCA	0.527																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(388-390)ccC>ccA									68.0	74.0	72.0					5																	140201750		2203	4300	6503	SO:0001819	synonymous_variant	56143							g.chr5:140201750C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.390C>A	5.37:g.140201750C>A			Somatic				PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.P130P	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	390	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.390C>A	CCDS54917.1																																																																																				0.527	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	104	5	104	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	782					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2344-2346)acG>acA									96.0	104.0	101.0					5																	140795088		2203	4300	6503	SO:0001819	synonymous_variant	56106							g.chr5:140795088G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2346G>A	5.37:g.140795088G>A			Somatic				PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.T782T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2346	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2346G>A	CCDS47292.1																																																																																				0.507	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		18	122	18	122	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	ENST00000265094.5	-	6	916	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.N247S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(739-741)aAt>aGt		F-box and WD repeat domain containing 11							64.0	63.0	63.0					5																	171318481		2203	4299	6502	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171318481T>C	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.779A>G	5.37:g.171318481T>C	ENSP00000265094:p.Asn260Ser		Somatic				FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	p.N247S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	WXS	Illumina GAIIx	Phase_I	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1110	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	260					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.740A>G	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898370	0.52227	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.61040	1.3;0.14;1.3;1.3	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39514	1.22	0.80722	D	1	B;B;B;B	0.28208	0.063;0.099;0.203;0.051	B;B;B;B	0.23574	0.008;0.019;0.047;0.011	T	0.53208	-0.8471	10	0.72032	D	0.01	-19.0506	14.5654	0.68171	0.0:0.0:0.0:1.0	.	228;226;260;247	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	S	247;260;226;228	ENSP00000296933:N247S;ENSP00000265094:N260S;ENSP00000377391:N226S;ENSP00000444929:N228S	ENSP00000265094:N260S	N	-	2	0	FBXW11	171251086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	1.991000	0.58162	0.477000	0.44152	AAT		0.348	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		7	44	7	44	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	ENST00000251582.7	-	4	954	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	285	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(853-855)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 2							159.0	132.0	141.0					5																	178634552		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634552C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.853G>A	5.37:g.178634552C>T	ENSP00000251582:p.Glu285Lys		Somatic				ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	p.E285K	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	954	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	285			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.853G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589655	0.86851	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86956	-2.19;-2.19	5.39	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.51477	D	0.000090	D	0.90827	0.7119	L	0.51422	1.61	0.52501	D	0.999955	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	D	0.89548	0.3797	10	0.33141	T	0.24	.	14.8852	0.70564	0.1447:0.8553:0.0:0.0	.	285;285	O95450-2;O95450	.;ATS2_HUMAN	K	285	ENSP00000251582:E285K;ENSP00000274609:E285K	ENSP00000251582:E285K	E	-	1	0	ADAMTS2	178567158	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.582000	0.82546	1.398000	0.46701	0.561000	0.74099	GAG		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		9	128	9	128	---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(493-495)ctC>ctG		family with sequence similarity 50, member B							27.0	29.0	28.0					6																	3850540		2200	4299	6499	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850540C>G	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.495C>G	6.37:g.3850540C>G			Somatic				FAM50B_ENST00000380272.3_Silent_p.L165L	p.L165L			WXS	Illumina GAIIx	Phase_I	Q9Y247	FA50B_HUMAN			1	921	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	165					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.495C>G	CCDS4487.1																																																																																				0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		6	47	6	47	---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	rs183255612		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(892-894)tAt>tGt		E2F transcription factor 3							65.0	63.0	63.0					6																	20486928		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486928A>G	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.893A>G	6.37:g.20486928A>G	ENSP00000262904:p.Tyr298Cys		Somatic				E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	p.Y298C	NM_001949.4	NP_001940.1	WXS	Illumina GAIIx	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	959	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		298			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.893A>G	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390290	0.82902	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.96587	-4.06;-4.06	5.93	5.93	0.95920	.	0.110414	0.64402	D	0.000004	D	0.98232	0.9415	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99387	1.0924	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	298	O00716	E2F3_HUMAN	C	298;167	ENSP00000262904:Y298C;ENSP00000443418:Y167C	ENSP00000262904:Y298C	Y	+	2	0	E2F3	20594907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.271000	0.75665	0.459000	0.35465	TAT		0.333	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			7	44	7	44	---	---	---	---
BTN3A2	11118	broad.mit.edu	37	6	26368874	26368874	+	Missense_Mutation	SNP	C	C	A	rs376536724		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:26368874C>A	ENST00000356386.2	+	4	355	c.167C>A	c.(166-168)cCg>cAg	p.P56Q	BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	56	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CACCTGTTCCCGACCATGAGT	0.562																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(166-168)cCg>cAg		butyrophilin, subfamily 3, member A2							198.0	151.0	167.0					6																	26368874		2202	4297	6499	SO:0001583	missense	11118					integral to membrane		g.chr6:26368874C>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.167C>A	6.37:g.26368874C>A	ENSP00000348751:p.Pro56Gln		Somatic				BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q	p.P56Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	WXS	Illumina GAIIx	Phase_I	P78410	BT3A2_HUMAN			4	355	+			56			Ig-like V-type.		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.167C>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	14.27	2.485204	0.44147	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18;4.18;4.18	3.17	1.25	0.21368	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06050	0.0157	M	0.83223	2.63	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.16041	-1.0416	9	0.87932	D	0	.	6.2604	0.20897	0.0:0.7307:0.0:0.2693	.	33;56	F8W6E0;P78410	.;BT3A2_HUMAN	Q	14;14;56;56;56;56;33;56;56;14	ENSP00000435952:P14Q;ENSP00000434102:P14Q;ENSP00000433749:P56Q;ENSP00000432138:P56Q;ENSP00000348751:P56Q;ENSP00000380140:P33Q;ENSP00000366937:P56Q;ENSP00000380152:P56Q;ENSP00000442687:P14Q	ENSP00000348751:P56Q	P	+	2	0	BTN3A2	26476853	0.128000	0.22383	0.000000	0.03702	0.176000	0.22953	2.410000	0.44592	0.124000	0.18369	0.405000	0.27470	CCG		0.562	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			6	202	6	202	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5374-5376)Gtg>Atg		tenascin XB							23.0	26.0	25.0					6																	32037543		2011	4177	6188	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037543C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5374G>A	6.37:g.32037543C>T	ENSP00000364393:p.Val1792Met		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M	p.V1792M			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			15	5575	-			1874			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5374G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030932	0.75504	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	.	0.171276	0.28209	N	0.016189	T	0.64886	0.2639	L	0.58925	1.835	0.23984	N	0.996269	D	0.89917	1.0	D	0.91635	0.999	T	0.60105	-0.7328	10	0.48119	T	0.1	.	16.3129	0.82904	0.0:1.0:0.0:0.0	.	1792	P22105-3	.	M	1792	ENSP00000364393:V1792M;ENSP00000364396:V1792M	ENSP00000364393:V1792M	V	-	1	0	TNXB	32145521	0.074000	0.21230	0.994000	0.49952	0.992000	0.81027	0.677000	0.25262	2.598000	0.87819	0.591000	0.81541	GTG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	22	8	22	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43415021	43415021	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:43415021C>A	ENST00000372530.4	+	17	3795	c.3580C>A	c.(3580-3582)Ctg>Atg	p.L1194M	ABCC10_ENST00000244533.3_Missense_Mutation_p.L1166M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1194	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGCCCTGTCCCTGACGGGCCT	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3496-3498)Ctg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							96.0	89.0	92.0					6																	43415021		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415021C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3580C>A	6.37:g.43415021C>A	ENSP00000361608:p.Leu1194Met		Somatic				ABCC10_ENST00000372530.4_Missense_Mutation_p.L1194M	p.L1166M	NM_033450.2	NP_258261.2	WXS	Illumina GAIIx	Phase_I	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3855	+	all_lung(25;0.00536)		1194			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3496C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226551	0.58668	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91237	-2.81;-2.81	5.34	0.473	0.16763	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.540563	0.17388	N	0.176049	D	0.85665	0.5749	L	0.45470	1.425	0.38014	D	0.934625	P;D	0.71674	0.936;0.998	P;D	0.71414	0.511;0.973	T	0.80259	-0.1457	10	0.27082	T	0.32	-6.8493	2.3151	0.04197	0.1031:0.3953:0.1384:0.3632	.	1166;1194	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1194;1166	ENSP00000361608:L1194M;ENSP00000244533:L1166M	ENSP00000244533:L1166M	L	+	1	2	ABCC10	43522999	0.422000	0.25473	0.992000	0.48379	0.918000	0.54935	0.561000	0.23515	0.013000	0.14918	-0.218000	0.12543	CTG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		7	135	7	135	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151153132	151153132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:151153132C>A	ENST00000358517.2	+	15	3096	c.2885C>A	c.(2884-2886)cCt>cAt	p.P962H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P962H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	962							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAGAAAACCCTGACCTGGGG	0.488																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2884-2886)cCt>cAt		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							125.0	138.0	134.0					6																	151153132		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153132C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2885C>A	6.37:g.151153132C>A	ENSP00000351318:p.Pro962His		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P962H	p.P962H	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3197	+			962					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2885C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009454	0.54361	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.21543	2.0;2.0	5.4	5.4	0.78164	.	0.645911	0.17117	N	0.186395	T	0.13329	0.0323	L	0.57536	1.79	0.09310	N	1	P;P;P	0.38642	0.641;0.641;0.641	B;B;B	0.40702	0.338;0.338;0.338	T	0.07597	-1.0764	10	0.62326	D	0.03	.	10.3436	0.43893	0.0:0.8802:0.0:0.1198	.	769;962;962	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	H	962	ENSP00000356297:P962H;ENSP00000351318:P962H	ENSP00000351318:P962H	P	+	2	0	PLEKHG1	151194825	0.050000	0.20438	0.628000	0.29241	0.967000	0.64934	1.217000	0.32455	2.548000	0.85928	0.655000	0.94253	CCT		0.488	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	218	8	218	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170639605	170639606	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605_170639606GA>TT	ENST00000476287.1	+	4	2092_2093	c.1984_1985GA>TT	c.(1984-1986)GAc>TTc	p.D662F	MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685F|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674F|FAM120B_ENST00000252510.9_5'UTR	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAGG	0.48																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)Gac>Tac|c.(1984-1986)gAc>gTc		family with sequence similarity 120B																																				SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639605G>T|g.chr6:170639606A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	Exception_encountered	6.37:g.170639605_170639606delinsTT	ENSP00000417970:p.Asp662Phe		Somatic				FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	p.D662Y|p.D662V	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2092|2093	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1984G>T|c.1985A>T	CCDS5314.1																																																																																				0.480	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	9	83	---	---	---	---
GPER1	2852	broad.mit.edu	37	7	1131448	1131448	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:1131448C>A	ENST00000297469.3	+	2	775	c.84C>A	c.(82-84)tcC>tcA	p.S28S	GPER1_ENST00000401670.1_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397092.1_Silent_p.S28S	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	28					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										ACACCACCTCCCCCGAGCTCA	0.672																																						ENST00000397092.1																			0											c.(82-84)tcC>tcA		G protein-coupled estrogen receptor 1							47.0	47.0	47.0					7																	1131448		2201	4299	6500	SO:0001819	synonymous_variant	2852							g.chr7:1131448C>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.84C>A	7.37:g.1131448C>A			Somatic				C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S28S|GPER1_ENST00000297469.3_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron	p.S28S	NM_001039966.1	NP_001035055.1	WXS	Illumina GAIIx	Phase_I					3	968	+			28					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.84C>A	CCDS5322.1																																																																																				0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		5	71	5	71	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4796699	4796699	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:4796699G>T	ENST00000328914.4	+	5	1125	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCTGGGAAGGGGTCCTTTT	0.557																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1123-1125)aaG>aaT		forkhead box K1							79.0	86.0	84.0					7																	4796699		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796699G>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1125G>T	7.37:g.4796699G>T	ENSP00000328720:p.Lys375Asn		Somatic				FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	p.K375N	NM_001037165.1	NP_001032242.1	WXS	Illumina GAIIx	Phase_I	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1125	+		Ovarian(82;0.0175)	375						Missense_Mutation	SNP	ENST00000328914.4	37	c.1125G>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815258	0.70912	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97665	-4.48;-4.48	5.8	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.93328	3.405	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.98688	1.0695	10	0.87932	D	0	.	10.5939	0.45325	0.2098:0.0:0.7902:0.0	.	375;212	P85037;P85037-2	FOXK1_HUMAN;.	N	212;139;375;258	ENSP00000394442:K212N;ENSP00000328720:K375N	ENSP00000328720:K375N	K	+	3	2	FOXK1	4763225	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.480000	0.22244	0.803000	0.34113	-0.140000	0.14226	AAG		0.557	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	141	6	141	---	---	---	---
AIMP2	7965	broad.mit.edu	37	7	6054935	6054935	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:6054935C>A	ENST00000223029.3	+	2	413	c.294C>A	c.(292-294)ccC>ccA	p.P98P	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Silent_p.P20P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	98	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGATGAGCCCACGACTTTAA	0.458																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(292-294)ccC>ccA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							116.0	104.0	108.0					7																	6054935		2203	4300	6503	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054935C>A	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.294C>A	7.37:g.6054935C>A			Somatic				AIMP2_ENST00000400479.2_Silent_p.P20P|AIMP2_ENST00000395236.2_Intron	p.P98P	NM_006303.3	NP_006294.2	WXS	Illumina GAIIx	Phase_I	Q13155	AIMP2_HUMAN			2	413	+			98		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).	Interaction with PARK2.		Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.294C>A	CCDS5344.1																																																																																				0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		5	97	5	97	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25175953	25175953	+	Missense_Mutation	SNP	G	G	T	rs35154287	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:25175953G>T	ENST00000409280.1	-	10	1719	c.1411C>A	c.(1411-1413)Cta>Ata	p.L471I	C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	471										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGATCACGTAGGGGAGATTTA	0.383																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1411-1413)Cta>Ata		chromosome 7 open reading frame 31							209.0	222.0	217.0					7																	25175953		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175953G>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1411C>A	7.37:g.25175953G>T	ENSP00000386604:p.Leu471Ile		Somatic				C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I	p.L471I			WXS	Illumina GAIIx	Phase_I	Q8N865	CG031_HUMAN			10	1719	-			471					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1411C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934340	0.02340	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.0	-9.99	0.00435	.	2.751950	0.01197	N	0.007499	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40117	-0.9580	10	0.18276	T	0.48	-27.6333	1.4722	0.02418	0.2586:0.0819:0.3149:0.3445	.	471	Q8N865	CG031_HUMAN	I	471	ENSP00000386604:L471I;ENSP00000283905:L471I	ENSP00000283905:L471I	L	-	1	2	C7orf31	25142478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.122000	0.03267	-3.064000	0.00255	-0.897000	0.02905	CTA		0.383	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		7	283	7	283	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34009963	34009963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:34009963G>T	ENST00000297161.2	+	6	799	c.425G>T	c.(424-426)gGg>gTg	p.G142V	BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAGAGTCTGGGGTGCGCTGT	0.493																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(424-426)gGg>gTg		BMP binding endothelial regulator							236.0	200.0	212.0					7																	34009963		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34009963G>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.425G>T	7.37:g.34009963G>T	ENSP00000297161:p.Gly142Val		Somatic				BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	p.G142V	NM_133468.4	NP_597725.1	WXS	Illumina GAIIx	Phase_I	Q8N8U9	BMPER_HUMAN			6	799	+			142			VWFC 2.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.425G>T	CCDS5442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.584|8.584	0.883083|0.883083	0.17467|0.17467	.|.	.|.	ENSG00000164619|ENSG00000164619	ENST00000297161;ENST00000426693|ENST00000436222	T;T|.	0.63913|.	-0.07;-0.07|.	5.75|5.75	1.93|1.93	0.25924|0.25924	von Willebrand factor, type C (1);|.	0.154328|0.154328	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.02802|0.02802	-0.49|-0.49	0.34551|0.34551	D|D	0.711296|0.711296	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.36672|0.36672	-0.9738|-0.9738	10|7	0.31617|0.87932	T|D	0.26|0	.|.	8.4724|8.4724	0.32993|0.32993	0.6909:0.2448:0.0643:0.0|0.6909:0.2448:0.0643:0.0	.|.	142|.	Q8N8U9|.	BMPER_HUMAN|.	V|W	142|109	ENSP00000297161:G142V;ENSP00000393950:G142V|.	ENSP00000297161:G142V|ENSP00000399843:G109W	G|G	+|+	2|1	0|0	BMPER|BMPER	33976488|33976488	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.653000|0.653000	0.38743|0.38743	4.202000|4.202000	0.58446|0.58446	0.075000|0.075000	0.16796|0.16796	-0.294000|-0.294000	0.09567|0.09567	GGG|GGG		0.493	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		6	153	6	153	---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99079801	99079801	+	Intron	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99079801A>C	ENST00000331410.5	+	4	421				ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000379724.3_Missense_Mutation_p.D56A|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789						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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378																																						ENST00000379724.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(166-168)gAt>gCt		zinc finger protein 789							125.0	111.0	116.0					7																	99079801		2203	4297	6500	SO:0001627	intron_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99079801A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.152-1852A>C	7.37:g.99079801A>C			Somatic				ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron	p.D56A	NM_001013258.1	NP_001013276.1	WXS	Illumina GAIIx	Phase_I	Q5FWF6	ZN789_HUMAN			4	366	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		55			KRAB.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.167A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419372	0.04766	.	.	ENSG00000198556	ENST00000379724	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01976	0.0062	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	6	0.56958	D	0.05	.	.	.	.	.	56	A6NH61	.	A	56	ENSP00000369047:D56A	ENSP00000369047:D56A	D	+	2	0	ZNF789	98917737	0.003000	0.15002	0.377000	0.26055	0.377000	0.30045	0.352000	0.20113	0.056000	0.16144	0.055000	0.15244	GAT		0.378	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	49	11	49	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	ENST00000424697.1	-	6	625	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.R107G	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(319-321)Aga>Gga		zinc finger protein 3							111.0	100.0	103.0					7																	99669788		1844	4087	5931	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669788T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.319A>G	7.37:g.99669788T>C	ENSP00000415358:p.Arg107Gly		Somatic				ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	p.R107G			WXS	Illumina GAIIx	Phase_I	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1286	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	107			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.319A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	6.168	0.399195	0.11696	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;5.12;5.25;5.25;5.07	5.01	4.12	0.48240	Krueppel-associated box (2);	0.389409	0.22188	N	0.063419	T	0.03959	0.0111	N	0.04132	-0.27	0.22961	N	0.998506	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42155	-0.9468	10	0.21540	T	0.41	-10.2609	10.4537	0.44537	0.0:0.9028:0.0:0.0972	.	90;107	B3KRP4;P17036	.;ZNF3_HUMAN	G	107;107;107;71;107;107;71	ENSP00000415358:R107G;ENSP00000306372:R107G;ENSP00000299667:R107G;ENSP00000416088:R71G;ENSP00000405970:R107G;ENSP00000388042:R107G;ENSP00000394113:R71G	ENSP00000299667:R107G	R	-	1	2	ZNF3	99507724	0.001000	0.12720	0.847000	0.33407	0.829000	0.46940	0.971000	0.29396	1.323000	0.45263	-0.415000	0.06103	AGA		0.403	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		16	81	16	81	---	---	---	---
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.001	False		,,,				2504	0.0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42.0	36.0	38.0		633,633	0.3	1.0	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T			Somatic				ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	WXS	Illumina GAIIx	Phase_I	Q96SN7	ORAI2_HUMAN			4	868	+			211					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.633C>T	CCDS5722.1																																																																																				0.667	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		6	36	6	36	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108142978	108142978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:108142978C>A	ENST00000422087.1	-	6	1721	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000426128.2_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	439					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTCCTCTCCCTTTCACTGGA	0.358																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1315-1317)Ggg>Tgg		patatin-like phospholipase domain containing 8							105.0	108.0	107.0					7																	108142978		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108142978C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1315G>T	7.37:g.108142978C>A	ENSP00000410804:p.Gly439Trp		Somatic				PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000422087.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W	p.G439W	NM_001256009.1	NP_001242938.1	WXS	Illumina GAIIx	Phase_I	Q9NP80	PLPL8_HUMAN			4	1440	-			439					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1315G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030329	0.93575	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	6.08	6.08	0.98989	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52924	-0.8510	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	439	Q9NP80	PLPL8_HUMAN	W	439;439;439;439;339;439;339	ENSP00000394988:G439W;ENSP00000257694:G439W;ENSP00000373380:G439W;ENSP00000410804:G439W;ENSP00000387789:G339W;ENSP00000406779:G439W;ENSP00000402274:G339W	ENSP00000257694:G439W	G	-	1	0	PNPLA8	107930214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.784000	0.85713	2.894000	0.99253	0.591000	0.81541	GGG		0.358	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		5	100	5	100	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753227	121753227	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:121753227G>T	ENST00000393376.1	-	10	1318	c.1223C>A	c.(1222-1224)cCa>cAa	p.P408Q	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	408	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGCTTCAATTGGGAGCTGTGC	0.403																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1222-1224)cCa>cAa		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						103.0	92.0	95.0					7																	121753227		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753227G>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1223C>A	7.37:g.121753227G>T	ENSP00000377040:p.Pro408Gln		Somatic				AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q	p.P408Q			WXS	Illumina GAIIx	Phase_I	Q9UDR5	AASS_HUMAN			10	1318	-			408			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1223C>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720342	0.89205	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89914	0.4054	9	0.87932	D	0	-11.5579	18.5956	0.91228	0.0:0.0:1.0:0.0	.	408	Q9UDR5	AASS_HUMAN	Q	408	.	ENSP00000351834:P408Q	P	-	2	0	AASS	121540463	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	9.813000	0.99286	2.459000	0.83118	0.655000	0.94253	CCA		0.403	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	49	4	49	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	ENST00000475153.1	+	6	1724	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000420008.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(943-945)cCt>cTt		zinc finger protein 398							58.0	51.0	53.0					7																	148876421		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876421C>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1457C>T	7.37:g.148876421C>T	ENSP00000420418:p.Pro486Leu		Somatic				ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L	p.P315L	NM_170686.2	NP_733787.1	WXS	Illumina GAIIx	Phase_I	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1732	+	Melanoma(164;0.15)		486					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.944C>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900166	0.72754	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.33498	0.0865	L	0.43923	1.385	0.43924	D	0.996577	D;D	0.76494	0.987;0.999	P;D	0.72338	0.732;0.977	T	0.01202	-1.1420	10	0.35671	T	0.21	-17.5667	16.2021	0.82088	0.0:1.0:0.0:0.0	.	491;486	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	315;315;486;315;315;491;315	ENSP00000389972:P315L;ENSP00000416751:P315L;ENSP00000420418:P486L;ENSP00000418564:P315L;ENSP00000419391:P315L;ENSP00000439340:P491L;ENSP00000338984:P315L	ENSP00000338984:P315L	P	+	2	0	ZNF398	148507354	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	0.574000	0.23714	2.418000	0.82041	0.650000	0.86243	CCT		0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			12	61	12	61	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	rs199958692		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	ENST00000463381.1	+	13	1505	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	AGAP3_ENST00000397238.2_Missense_Mutation_p.V668I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18505	0.0		0.001	False		,,,				2504	0.0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2002-2004)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		G	ILE/VAL	0,4222		0,0,2111	122.0	132.0	128.0		2002	4.9	1.0	7		128	4,8450		0,4,4223	yes	missense	AGAP3	NM_031946.4	29	0,4,6334	AA,AG,GG		0.0473,0.0,0.0316	benign	668/912	150839292	4,12672	2111	4227	6338	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839292G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1009G>A	7.37:g.150839292G>A	ENSP00000418016:p.Val337Ile		Somatic				AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	p.V668I	NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			15	2002	+			632			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827098	0.02734	0.0	4.73E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	.	0.356142	0.29980	N	0.010708	T	0.12561	0.0305	N	0.00991	-1.07	0.80722	D	1	B;B;B;B	0.21905	0.016;0.062;0.005;0.006	B;B;B;B	0.21917	0.029;0.037;0.003;0.002	T	0.28106	-1.0054	10	0.02654	T	1	.	8.4175	0.32681	0.0837:0.1565:0.7598:0.0	.	632;167;668;337	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	I	337;167;668;632	ENSP00000418016:V337I;ENSP00000380413:V668I	ENSP00000334157:V632I	V	+	1	0	AGAP3	150470225	0.982000	0.34865	0.960000	0.40013	0.232000	0.25224	2.112000	0.41892	2.403000	0.81681	0.655000	0.94253	GTC		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		42	202	42	202	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:151879331G>A	ENST00000262189.6	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1872*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1872	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAGTCTGAGCCTGAGAA	0.512																																						ENST00000355193.2																			0											c.(5614-5616)Cag>Tag		lysine (K)-specific methyltransferase 2C							86.0	88.0	87.0					7																	151879331		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879331G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5614C>T	7.37:g.151879331G>A	ENSP00000262189:p.Gln1872*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*	p.Q1872*			WXS	Illumina GAIIx	Phase_I					36	5832	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5614C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	48	13.956177	0.99772	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	.	.	.	X	1872	.	ENSP00000262189:Q1872X	Q	-	1	0	MLL3	151510264	1.000000	0.71417	0.247000	0.24249	0.837000	0.47467	6.700000	0.74619	2.540000	0.85666	0.563000	0.77884	CAG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	122	27	122	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18729462	18729462	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:18729462C>A	ENST00000327040.8	-	3	1014	c.912G>T	c.(910-912)gtG>gtT	p.V304V	PSD3_ENST00000523619.1_Silent_p.V239V|PSD3_ENST00000440756.2_Silent_p.V304V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	304					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACAGTATTTCCACTCCTTGAA	0.522																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(910-912)gtG>gtT		pleckstrin and Sec7 domain containing 3							107.0	111.0	110.0					8																	18729462		1999	4162	6161	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729462C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.912G>T	8.37:g.18729462C>A			Somatic				PSD3_ENST00000327040.8_Silent_p.V304V|PSD3_ENST00000523619.1_Silent_p.V239V	p.V304V			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1014	-			304					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.912G>T	CCDS43720.1																																																																																				0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		5	127	5	127	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98701313	98701313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:98701313G>T	ENST00000336273.3	+	5	1121	c.793G>T	c.(793-795)Gga>Tga	p.G265*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	265					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ATCTGGAAAAGGAGATTCTAC	0.299																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(793-795)Gga>Tga		metadherin							52.0	60.0	57.0					8																	98701313		2201	4276	6477	SO:0001587	stop_gained	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98701313G>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.793G>T	8.37:g.98701313G>T	ENSP00000338235:p.Gly265*		Somatic				MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	p.G265*	NM_178812.3	NP_848927.2	WXS	Illumina GAIIx	Phase_I	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		5	1121	+	Breast(36;2.56e-06)		265					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Nonsense_Mutation	SNP	ENST00000336273.3	37	c.793G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459112	0.84317	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	.	.	.	5.84	4.94	0.65067	.	0.173529	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.1842	12.4183	0.55506	0.0805:0.0:0.9195:0.0	.	.	.	.	X	265;242	.	ENSP00000338235:G265X	G	+	1	0	MTDH	98770489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	1.408000	0.46895	0.557000	0.71058	GGA		0.299	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			6	125	6	125	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99146744	99146744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:99146744G>T	ENST00000401707.2	+	7	949	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	POP1_ENST00000349693.3_Missense_Mutation_p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	290					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCGCCAAGGGAGCCTTGT	0.493																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(868-870)Ggg>Tgg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							125.0	125.0	125.0					8																	99146744		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99146744G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.868G>T	8.37:g.99146744G>T	ENSP00000385787:p.Gly290Trp		Somatic				POP1_ENST00000349693.3_Missense_Mutation_p.G290W	p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	WXS	Illumina GAIIx	Phase_I	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		7	949	+	Breast(36;1.78e-06)		290					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.868G>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992756	0.93167	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.40756	1.02;1.02	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.86740	2.835	0.80722	D	1	P	0.46395	0.877	P	0.53006	0.715	T	0.63332	-0.6661	10	0.36615	T	0.2	-8.4628	18.8049	0.92032	0.0:0.0:1.0:0.0	.	290	Q99575	POP1_HUMAN	W	290	ENSP00000385787:G290W;ENSP00000339529:G290W	ENSP00000339529:G290W	G	+	1	0	POP1	99215920	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GGG		0.493	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		6	124	6	124	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104340581	104340581	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:104340581G>T	ENST00000358755.4	+	5	1795	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	FZD6_ENST00000522566.1_Missense_Mutation_p.W493L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000540287.1_Missense_Mutation_p.W188L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	493					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCTGTCTTCTGGGTTGGAAGC	0.358																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1477-1479)tGg>tTg		frizzled family receptor 6							100.0	104.0	103.0					8																	104340581		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340581G>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1478G>T	8.37:g.104340581G>T	ENSP00000351605:p.Trp493Leu		Somatic				FZD6_ENST00000540287.1_Missense_Mutation_p.W188L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000522566.1_Missense_Mutation_p.W493L	p.W493L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	WXS	Illumina GAIIx	Phase_I	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1795	+			493					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1478G>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184362	0.94885	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.238637	0.46758	D	0.000266	D	0.96926	0.8996	M	0.94142	3.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	D	0.97580	1.0110	10	0.87932	D	0	.	19.6532	0.95825	0.0:0.0:1.0:0.0	.	438;188;493;493	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	L	493;493;461;188;438	ENSP00000429055:W493L;ENSP00000351605:W493L;ENSP00000429528:W461L;ENSP00000443757:W188L	ENSP00000351605:W493L	W	+	2	0	FZD6	104409757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.568000	0.98166	2.718000	0.92993	0.467000	0.42956	TGG		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	78	5	78	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104922549	104922549	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:104922549G>T	ENST00000262231.10	+	3	1297	c.1049G>T	c.(1048-1050)gGg>gTg	p.G350V	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	573					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCTGTAGGGGACAGTCAA	0.343										HNSCC(12;0.0054)																												ENST00000262231.10																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1048-1050)gGg>gTg		regulating synaptic membrane exocytosis 2							132.0	130.0	130.0					8																	104922549		876	1991	2867	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922549G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000262231.10:c.1049-1G>T	8.37:g.104922549G>T		HNSCC(12;0.0054)	Somatic				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	p.G350V	NM_001282881.1	NP_001269810.1	WXS	Illumina GAIIx	Phase_I	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1297	+			573					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	ENST00000262231.10	37	c.1049G>T		.	.	.	.	.	.	.	.	.	.	G	18.14	3.557394	0.65425	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.24908	1.83	5.09	5.09	0.68999	.	.	.	.	.	T	0.52386	0.1731	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.51576	-0.8688	7	.	.	.	.	18.8725	0.92320	0.0:0.0:1.0:0.0	.	350	Q9UQ26-1	.	V	573;350	ENSP00000262231:G350V	.	G	+	2	0	RIMS2	104991725	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.745000	0.98856	2.523000	0.85059	0.650000	0.86243	GGG		0.343	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	NM_001100117	Missense_Mutation	6	142	6	142	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457298	110457298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:110457298C>A	ENST00000378402.5	+	38	5304	c.5200C>A	c.(5200-5202)Cag>Aag	p.Q1734K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1734	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGCCTGCCCAGTGCCAGGG	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5200-5202)Cag>Aag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							163.0	157.0	159.0					8																	110457298		1916	4141	6057	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457298C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5200C>A	8.37:g.110457298C>A	ENSP00000367655:p.Gln1734Lys	HNSCC(38;0.096)	Somatic					p.Q1734K	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5304	+			1734			IPT/TIG 9.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5200C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857971	0.17178	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	6.17	3.36	0.38483	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.380726	0.28001	N	0.016990	T	0.52141	0.1716	N	0.25144	0.715	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.33574	-0.9863	10	0.06365	T	0.9	.	6.5815	0.22596	0.1351:0.6637:0.1302:0.0711	.	1734	Q86WI1	PKHL1_HUMAN	K	1734	ENSP00000367655:Q1734K	ENSP00000367655:Q1734K	Q	+	1	0	PKHD1L1	110526474	0.141000	0.22595	0.575000	0.28536	0.986000	0.74619	0.754000	0.26390	0.442000	0.26555	0.655000	0.94253	CAG		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	313	7	313	---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110575674	110575674	+	Intron	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:110575674C>A	ENST00000337573.5	+	7	821				EBAG9_ENST00000531677.1_Silent_p.P190P|EBAG9_ENST00000395785.2_Intron	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9						regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCATCATCCCACTCCTACCT	0.438																																						ENST00000531677.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(568-570)ccC>ccA		estrogen receptor binding site associated, antigen, 9							466.0	424.0	437.0					8																	110575674		876	1991	2867	SO:0001627	intron_variant	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110575674C>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.522-994C>A	8.37:g.110575674C>A			Somatic				EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron	p.P190P			WXS	Illumina GAIIx	Phase_I	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	570	+			174					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Silent	SNP	ENST00000337573.5	37	c.570C>A	CCDS6313.1																																																																																				0.438	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		9	451	9	451	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113402985	113402985	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:113402985C>A	ENST00000297405.5	-	36	6086	c.5842G>T	c.(5842-5844)Ggg>Tgg	p.G1948W	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1948	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATAGTCCCTTTGCGCTTA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5842-5844)Ggg>Tgg		CUB and Sushi multiple domains 3							87.0	80.0	82.0					8																	113402985		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113402985C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5842G>T	8.37:g.113402985C>A	ENSP00000297405:p.Gly1948Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W	p.G1948W	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			36	6086	-			1948			CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5842G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554105	0.65425	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.24	5.24	0.73138	CUB (5);	0.000000	0.64402	D	0.000001	T	0.81978	0.4937	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88940	0.3379	10	0.87932	D	0	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	1844;1948;1908	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	1908;1948;1218;1844;1878	ENSP00000345799:G1908W;ENSP00000297405:G1948W;ENSP00000341558:G1218W;ENSP00000412263:G1844W;ENSP00000343124:G1878W	ENSP00000297405:G1948W	G	-	1	0	CSMD3	113472161	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	7.640000	0.83355	2.733000	0.93635	0.467000	0.42956	GGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	58	5	58	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120606084	120606084	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:120606084C>A	ENST00000075322.6	-	12	1047	c.989G>T	c.(988-990)aGg>aTg	p.R330M	ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M|ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000427067.2_Missense_Mutation_p.R326M|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCGATTTCCCTCAGAGGATT	0.423																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(976-978)aGg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 2							253.0	236.0	242.0					8																	120606084		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120606084C>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.989G>T	8.37:g.120606084C>A	ENSP00000075322:p.Arg330Met		Somatic				ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330M|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M	p.R326M			WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1157	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		330					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.977G>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950474	0.73787	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095715	0.64402	D	0.000001	D	0.83096	0.5180	M	0.63843	1.955	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.983;0.98;0.982	T	0.83249	-0.0054	10	0.54805	T	0.06	.	13.0438	0.58915	0.0:0.9263:0.0:0.0737	.	330;330;382	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	M	382;326;330;330	ENSP00000259486:R382M;ENSP00000403315:R326M;ENSP00000428291:R330M;ENSP00000075322:R330M	ENSP00000075322:R330M	R	-	2	0	ENPP2	120675265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	2.744000	0.94065	0.655000	0.94253	AGG		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	287	7	287	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124357245	124357245	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124357245C>A	ENST00000287394.5	-	19	2704	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	866					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AACTATTTCCCACCACACGTG	0.393																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2596-2598)tGg>tTg		ATPase family, AAA domain containing 2							235.0	207.0	217.0					8																	124357245		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124357245C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2597G>T	8.37:g.124357245C>A	ENSP00000287394:p.Trp866Leu		Somatic				ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	p.W866L	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		19	2704	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		866					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2597G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053411	0.93793	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.80824	-1.42;-1.42	5.49	5.49	0.81192	.	0.061142	0.64402	D	0.000001	D	0.87136	0.6102	L	0.56340	1.77	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.84381	0.0549	10	0.29301	T	0.29	-7.8494	19.3552	0.94410	0.0:1.0:0.0:0.0	.	866	Q6PL18	ATAD2_HUMAN	L	866;184	ENSP00000287394:W866L;ENSP00000429213:W184L	ENSP00000287394:W866L	W	-	2	0	ATAD2	124426426	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.818000	0.86416	2.576000	0.86940	0.591000	0.81541	TGG		0.393	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	258	7	258	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124663855	124663855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124663855C>A	ENST00000325995.7	-	1	1335	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	438										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATGTCCTCTCCTCCAAAGAGA	0.542																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1312-1314)Gga>Tga		kelch-like family member 38							139.0	136.0	137.0					8																	124663855		2034	4200	6234	SO:0001587	stop_gained	340359							g.chr8:124663855C>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1312G>T	8.37:g.124663855C>A	ENSP00000321475:p.Gly438*		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.G438*	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1335	-			438					A0PK12	Nonsense_Mutation	SNP	ENST00000325995.7	37	c.1312G>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	38	7.149542	0.98096	.	.	ENSG00000175946	ENST00000325995	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3576	0.94421	0.0:1.0:0.0:0.0	.	.	.	.	X	438	.	ENSP00000321475:G438X	G	-	1	0	KLHL38	124733036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.571000	0.86741	0.561000	0.74099	GGA		0.542	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			6	146	6	146	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125078687	125078687	+	Silent	SNP	C	C	A	rs532032781	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:125078687C>A	ENST00000522917.1	+	27	3780	c.3574C>A	c.(3574-3576)Cgg>Agg	p.R1192R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1192R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1192						integral component of membrane (GO:0016021)		p.R1192R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCCTTCCCGGAGGTCCAC	0.488																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.R1192R(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3574-3576)Cgg>Agg		fer-1-like 6 (C. elegans)							240.0	235.0	237.0					8																	125078687		1893	4122	6015	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125078687C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3574C>A	8.37:g.125078687C>A			Somatic				FER1L6_ENST00000399018.1_Silent_p.R1192R|FER1L6-AS2_ENST00000520031.1_RNA	p.R1192R	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		27	3780	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1192						Silent	SNP	ENST00000522917.1	37	c.3574C>A	CCDS43767.1																																																																																				0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	457	8	457	---	---	---	---
ZNF7	7553	broad.mit.edu	37	8	146066830	146066830	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:146066830C>A	ENST00000528372.1	+	5	578	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q			P17097	ZNF7_HUMAN	zinc finger protein 7	113					multicellular organismal development (GO:0007275)|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)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAATCTCCCCACAGGACTTT	0.473																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(337-339)cCa>cAa		zinc finger protein 7							147.0	152.0	150.0					8																	146066830		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146066830C>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.338C>A	8.37:g.146066830C>A	ENSP00000432724:p.Pro113Gln		Somatic				ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q	p.P113Q			WXS	Illumina GAIIx	Phase_I	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	578	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	113					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.338C>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226277	0.22542	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000533314;ENST00000527218;ENST00000528372	T;T;T;T;T;T;T	0.06933	7.23;3.52;3.52;3.24;4.41;5.82;3.52	4.27	0.943	0.19531	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.44421	-0.9329	9	0.26408	T	0.33	.	2.5406	0.04725	0.2313:0.4968:0.0:0.2719	.	124;113	B4DT08;P17097	.;ZNF7_HUMAN	Q	113;113;124;17;146;112;113	ENSP00000432641:P113Q;ENSP00000320627:P113Q;ENSP00000393260:P124Q;ENSP00000439424:P17Q;ENSP00000433630:P146Q;ENSP00000433656:P112Q;ENSP00000432724:P113Q	ENSP00000320627:P113Q	P	+	2	0	ZNF7	146037634	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.835000	0.27531	0.358000	0.24211	0.563000	0.77884	CCA		0.473	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		7	260	7	260	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79320978	79320978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:79320978C>A	ENST00000376718.3	-	8	6335	c.6212G>T	c.(6211-6213)tGg>tTg	p.W2071L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.W1712L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCATCTATCCACAAGTCAGG	0.517																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5134-5136)tGg>tTg		prune homolog 2 (Drosophila)							158.0	149.0	152.0					9																	79320978		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320978C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6212G>T	9.37:g.79320978C>A	ENSP00000365908:p.Trp2071Leu		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071L	p.W1712L			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			8	6335	-			2071					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5135G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112767	0.56398	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.74526	-0.85;-0.74	6.03	6.03	0.97812	.	0.000000	0.53938	D	0.000049	D	0.86343	0.5910	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86173	0.1601	10	0.87932	D	0	-7.6254	20.5666	0.99351	0.0:1.0:0.0:0.0	.	2071	Q8WUY3	PRUN2_HUMAN	L	2071;1712;2070	ENSP00000365908:W2071L;ENSP00000397425:W1712L	ENSP00000365908:W2071L	W	-	2	0	PRUNE2	78510798	1.000000	0.71417	0.999000	0.59377	0.104000	0.19210	5.359000	0.66074	2.854000	0.98071	0.655000	0.94253	TGG		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	186	6	186	---	---	---	---
GKAP1	80318	broad.mit.edu	37	9	86368205	86368205	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:86368205G>T	ENST00000376371.2	-	9	1208	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	270					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCAGCTTCTGGATTTCAGCA	0.323																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(808-810)Cag>Aag		G kinase anchoring protein 1							165.0	166.0	166.0					9																	86368205		2203	4297	6500	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86368205G>T	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.808C>A	9.37:g.86368205G>T	ENSP00000365550:p.Gln270Lys		Somatic				GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	p.Q270K	NM_025211.3	NP_079487.2	WXS	Illumina GAIIx	Phase_I	Q5VSY0	GKAP1_HUMAN			9	1208	-			270					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.808C>A	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335484	0.24253	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.67	5.67	0.87782	.	0.205342	0.51477	D	0.000084	T	0.43831	0.1265	N	0.22421	0.69	0.35456	D	0.796147	B;B	0.18461	0.001;0.028	B;B	0.16289	0.007;0.015	T	0.46148	-0.9212	9	0.12430	T	0.62	-21.371	17.5231	0.87792	0.0:0.0:1.0:0.0	.	219;270	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	270;219	.	ENSP00000365544:Q219K	Q	-	1	0	GKAP1	85558025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.249000	0.58766	2.671000	0.90904	0.557000	0.71058	CAG		0.323	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		6	103	6	103	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172257	94172257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:94172257C>A	ENST00000297689.3	-	2	1154	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	254					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGAGTACCCAGAGAAAGAA	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(760-762)Ggg>Tgg		nuclear factor, interleukin 3 regulated							123.0	127.0	126.0					9																	94172257		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172257C>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.760G>T	9.37:g.94172257C>A	ENSP00000297689:p.Gly254Trp		Somatic					p.G254W	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1154	-			254					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.760G>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554840	0.27739	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	2.78	0.32641	Vertebrate interleukin-3 regulated transcription factor (1);	0.411149	0.22504	N	0.059191	T	0.52125	0.1715	L	0.59436	1.845	0.09310	N	1	D	0.65815	0.995	P	0.59171	0.853	T	0.42548	-0.9445	9	0.87932	D	0	-15.2359	9.4644	0.38804	0.0:0.763:0.0:0.237	.	254	Q16649	NFIL3_HUMAN	W	254	.	ENSP00000297689:G254W	G	-	1	0	NFIL3	93212078	0.000000	0.05858	0.003000	0.11579	0.091000	0.18340	0.077000	0.14738	0.567000	0.29293	0.561000	0.74099	GGG		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		6	143	6	143	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898650	112898650	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:112898650C>A	ENST00000259318.7	+	2	340	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.L276M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M|AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	45										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCACGAATCCCTGGATAATGA	0.507																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(826-828)Ctg>Atg									178.0	153.0	162.0					9																	112898650		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898650C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.133C>A	9.37:g.112898650C>A	ENSP00000259318:p.Leu45Met		Somatic				AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000259318.7_Missense_Mutation_p.L45M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M	p.L276M	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			8	1006	+			45					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.826C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971292	0.74246	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52295	1.99;1.99;1.99;1.99;1.27;0.69;0.67;1.29	6.17	5.27	0.74061	.	0.162049	0.43416	D	0.000575	T	0.63224	0.2493	M	0.66939	2.045	0.41231	D	0.986574	P;D;D;D;D;D;D;D	0.76494	0.858;0.981;0.959;0.981;0.968;0.999;0.999;0.999	B;P;B;P;P;D;D;D	0.74023	0.365;0.799;0.433;0.799;0.635;0.982;0.982;0.96	T	0.66775	-0.5838	10	0.72032	D	0.01	-19.1095	8.8072	0.34945	0.1493:0.7754:0.0:0.0753	.	45;134;128;134;135;276;276;94	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	M	276;276;276;276;134;134;94;45	ENSP00000363654:L276M;ENSP00000305861:L276M;ENSP00000451476:L276M;ENSP00000421522:L276M;ENSP00000404782:L134M;ENSP00000363649:L134M;ENSP00000419268:L94M;ENSP00000259318:L45M	ENSP00000259318:L45M	L	+	1	2	PALM2-AKAP2;AKAP2	111938471	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	2.063000	0.41423	1.598000	0.50083	0.655000	0.94253	CTG		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	124	5	124	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114204657	114204657	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:114204657C>A	ENST00000338205.5	-	4	537	c.318G>T	c.(316-318)gtG>gtT	p.V106V	KIAA0368_ENST00000259335.4_Silent_p.V284V			Q5VYK3	ECM29_HUMAN	KIAA0368	112					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGTTTTTCCACTGGTAGGC	0.398																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(850-852)gtG>gtT		KIAA0368							71.0	69.0	70.0					9																	114204657		1914	4133	6047	SO:0001819	synonymous_variant	23392							g.chr9:114204657C>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.318G>T	9.37:g.114204657C>A			Somatic				KIAA0368_ENST00000338205.5_Silent_p.V106V	p.V284V	NM_001080398.1	NP_001073867.1	WXS	Illumina GAIIx	Phase_I					6	851	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.852G>T																																																																																					0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		4	32	4	32	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117838732	117838732	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:117838732C>A	ENST00000350763.4	-	8	3208	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	933	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTGGTCCCCTCCAGAGATG	0.522																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2797-2799)Ggg>Tgg		tenascin C							253.0	230.0	238.0					9																	117838732		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117838732C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2797G>T	9.37:g.117838732C>A	ENSP00000265131:p.Gly933Trp		Somatic				TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	p.G933W	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			8	3208	-			933			Fibronectin type-III 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2797G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974957	0.74360	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.293652	0.36932	N	0.002329	D	0.83917	0.5358	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	D	0.87440	0.2394	10	0.72032	D	0.01	.	20.1029	0.97881	0.0:1.0:0.0:0.0	.	933;933	E9PC84;P24821	.;TENA_HUMAN	W	933	ENSP00000344400:G933W;ENSP00000438152:G933W;ENSP00000344555:G933W;ENSP00000345861:G933W;ENSP00000265131:G933W;ENSP00000339553:G933W;ENSP00000411406:G933W;ENSP00000443478:G933W;ENSP00000442242:G933W	ENSP00000344400:G933W	G	-	1	0	TNC	116878553	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.665000	0.68052	2.754000	0.94517	0.655000	0.94253	GGG		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	228	7	228	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26825131	26825131	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:26825131C>A	ENST00000376236.4	+	10	1484	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	343	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)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATTATGTACCCAAAGGAAAGA	0.333																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1027-1029)ccC>ccA		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							81.0	99.0	93.0					10																	26825131		2199	4297	6496	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825131C>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.1029C>A	10.37:g.26825131C>A			Somatic					p.P343P	NM_019043.3	NP_061916.3	WXS	Illumina GAIIx	Phase_I	Q7Z5R6	AB1IP_HUMAN			10	1484	+			343			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.1029C>A	CCDS31167.1																																																																																				0.333	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		7	183	7	183	---	---	---	---
LRRC37A6P	387646	broad.mit.edu	37	10	27536421	27536421	+	lincRNA	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:27536421G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTATGCTCTTGGATGAATGAA	0.567																																						ENST00000574842.1																			0																																																			387646							g.chr10:27536421G>T																													10.37:g.27536421G>T			Somatic				LRRC37A6P_ENST00000284414.4_RNA				WXS	Illumina GAIIx	Phase_I					0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.567	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			4	38	4	38	---	---	---	---
FUT11	170384	broad.mit.edu	37	10	75533466	75533466	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75533466C>A	ENST00000372841.3	+	2	1270	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.P409P|AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	409					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGGCCTCTCCCGGGGACAGCC	0.587																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(1225-1227)ccC>ccA		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							71.0	74.0	73.0					10																	75533466		2203	4300	6503	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75533466C>A	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1227C>A	10.37:g.75533466C>A			Somatic				FUT11_ENST00000394790.1_Silent_p.P409P|FUT11_ENST00000465695.1_3'UTR	p.P409P	NM_173540.2	NP_775811.2	WXS	Illumina GAIIx	Phase_I	Q495W5	FUT11_HUMAN			2	1270	+	Prostate(51;0.0112)		409					Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.1227C>A	CCDS7333.1																																																																																				0.587	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		5	137	5	137	---	---	---	---
CHCHD1	118487	broad.mit.edu	37	10	75542178	75542178	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75542178C>A	ENST00000372833.5	+	2	235	c.222C>A	c.(220-222)ctC>ctA	p.L74L	CHCHD1_ENST00000372837.3_Silent_p.L74L	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	74	CHCH.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					AGGGCTTCCTCGATTGTGCCG	0.537																																						ENST00000372837.3																			0				breast(1)	1						c.(220-222)ctC>ctA		coiled-coil-helix-coiled-coil-helix domain containing 1							69.0	68.0	69.0					10																	75542178		2203	4300	6503	SO:0001819	synonymous_variant	118487					nucleus		g.chr10:75542178C>A	AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	23518	protein-coding gene	gene with protein product		608842	"""chromosome 10 open reading frame 34"""	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.222C>A	10.37:g.75542178C>A			Somatic				CHCHD1_ENST00000372833.5_Silent_p.L74L	p.L74L			WXS	Illumina GAIIx	Phase_I	Q96BP2	CHCH1_HUMAN			2	251	+	Prostate(51;0.0112)		74			CHCH.			Silent	SNP	ENST00000372833.5	37	c.222C>A	CCDS7334.1																																																																																				0.537	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1	XM_058325		4	98	4	98	---	---	---	---
IFIT3	3437	broad.mit.edu	37	10	91099384	91099384	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:91099384G>T	ENST00000371818.4	+	2	1152	c.972G>T	c.(970-972)aaG>aaT	p.K324N	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	324					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCTTGAGAAGGGACTGAATC	0.413																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(970-972)aaG>aaT		interferon-induced protein with tetratricopeptide repeats 3							103.0	92.0	96.0					10																	91099384		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099384G>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.972G>T	10.37:g.91099384G>T	ENSP00000360883:p.Lys324Asn		Somatic				LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	p.K324N	NM_001549.4	NP_001540.2	WXS	Illumina GAIIx	Phase_I	O14879	IFIT3_HUMAN			2	1152	+			324					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.972G>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.891	0.533923	0.13188	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.38077	1.16;1.16	4.28	-1.07	0.09968	Tetratricopeptide-like helical (1);	0.393266	0.25487	N	0.030330	T	0.20820	0.0501	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.13522	-1.0506	10	0.17369	T	0.5	-4.7061	1.7173	0.02904	0.2411:0.2525:0.3776:0.1288	.	324	O14879	IFIT3_HUMAN	N	324;324;145	ENSP00000360883:K324N;ENSP00000360876:K324N	ENSP00000360876:K324N	K	+	3	2	IFIT3	91089364	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.198000	0.17217	-0.169000	0.10834	0.651000	0.88453	AAG		0.413	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		5	57	5	57	---	---	---	---
NEURL1	9148	broad.mit.edu	37	10	105350078	105350078	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:105350078C>A	ENST00000369780.4	+	6	2083	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	NEURL_ENST00000369777.2_Silent_p.P541P|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		558					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTGCTGCCCCATCTGCCGCC	0.627																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1672-1674)ccC>ccA									72.0	58.0	62.0					10																	105350078		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105350078C>A																												ENST00000369780.4:c.1674C>A	10.37:g.105350078C>A			Somatic				SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.P541P	p.P558P	NM_004210.4	NP_004201.3	WXS	Illumina GAIIx	Phase_I	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	2083	+			558					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.1674C>A	CCDS7551.1																																																																																				0.627	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			5	49	5	49	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115890993	115890993	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:115890993G>T	ENST00000369287.3	-	12	2280	c.2014C>A	c.(2014-2016)Cag>Aag	p.Q672K	C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		672								p.Q672K(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTTCTACCTGGGTACTCAAT	0.388																																						ENST00000369287.3																			1	Substitution - Missense(1)	p.Q672K(1)	lung(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2014-2016)Cag>Aag		chromosome 10 open reading frame 118							274.0	282.0	279.0					10																	115890993		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115890993G>T																												ENST00000369287.3:c.2014C>A	10.37:g.115890993G>T	ENSP00000358293:p.Gln672Lys		Somatic				C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	p.Q672K	NM_018017.2	NP_060487.2	WXS	Illumina GAIIx	Phase_I	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	12	2280	-		Colorectal(252;0.172)|Breast(234;0.188)	672					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2014C>A	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.93|10.93	1.488825|1.488825	0.26686|0.26686	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.21361	.|2.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.215352	.|0.49305	.|D	.|0.000147	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.16656|0.16656	0.425|0.425	0.33701|0.33701	D|D	0.614592|0.614592	.|B;B	.|0.20052	.|0.002;0.041	.|B;B	.|0.20384	.|0.005;0.029	T|T	0.11941|0.11941	-1.0567|-1.0567	5|10	.|0.22706	.|T	.|0.39	.|.	18.4718|18.4718	0.90777|0.90777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|270;672	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	Q|K	300|672;270;778	.|ENSP00000358293:Q672K	.|ENSP00000358293:Q672K	P|Q	-|-	2|1	0|0	C10orf118|C10orf118	115880983|115880983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	6.201000|6.201000	0.72124|0.72124	2.808000|2.808000	0.96608|0.96608	0.585000|0.585000	0.79938|0.79938	CCA|CAG		0.388	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			7	297	7	297	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120802285	120802285	+	Splice_Site	SNP	C	C	A	rs113384668		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:120802285C>A	ENST00000369144.3	-	19	2875		c.e19-1		EIF3A_ENST00000541549.1_Splice_Site	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCCACTCCCTACACAGCAA	0.423																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.e19-1		eukaryotic translation initiation factor 3, subunit A							83.0	89.0	87.0					10																	120802285		2203	4300	6503	SO:0001630	splice_region_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802285C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2748-1G>T	10.37:g.120802285C>A			Somatic				EIF3A_ENST00000541549.1_Splice_Site		NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2875	-		Lung NSC(174;0.094)|all_lung(145;0.123)						B7ZBG9|Q6IBN8|Q96TD5	Splice_Site	SNP	ENST00000369144.3	37		CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244064	0.22796	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	6.16	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.1296:0.8704:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF3A	120792275	1.000000	0.71417	0.994000	0.49952	0.496000	0.33645	2.567000	0.45956	1.571000	0.49722	0.650000	0.86243	.		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	Intron	6	146	6	146	---	---	---	---
UBXN1	51035	broad.mit.edu	37	11	62444225	62444225	+	Intron	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:62444225C>A	ENST00000301935.5	-	8	1011				UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Nonsense_Mutation_p.G302*|UBXN1_ENST00000529640.1_Intron|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						CCTCCTTTTCCTAGGCATGCC	0.512																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(904-906)Gga>Tga		UBX domain protein 1							154.0	148.0	150.0					11																	62444225		2202	4299	6501	SO:0001627	intron_variant	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444225C>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.844+59G>T	11.37:g.62444225C>A			Somatic				UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron	p.G302*	NM_015853.3	NP_056937.2	WXS	Illumina GAIIx	Phase_I	Q04323	UBXN1_HUMAN			8	1035	-			120					Q9BV93|Q9BVV5	Nonsense_Mutation	SNP	ENST00000301935.5	37	c.904G>T		.	.	.	.	.	.	.	.	.	.	C	10.91	1.483940	0.26598	.	.	ENSG00000162191	ENST00000294119	.	.	.	5.24	1.96	0.26148	.	1.876030	0.02425	N	0.082999	.	.	.	.	.	.	0.27523	N	0.951348	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1276	3.7957	0.08738	0.4213:0.4433:0.0:0.1354	.	.	.	.	X	302	.	ENSP00000294119:G302X	G	-	1	0	UBXN1	62200801	0.018000	0.18449	0.008000	0.14137	0.062000	0.15995	1.673000	0.37534	0.262000	0.21774	0.655000	0.94253	GGA		0.512	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		7	128	7	128	---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(1297-1299)Ggt>Agt		atlastin GTPase 3							126.0	126.0	126.0					11																	63398754		1941	4153	6094	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398754C>T		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1297G>A	11.37:g.63398754C>T	ENSP00000381844:p.Gly433Ser		Somatic				ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S	p.G433S	NM_015459.3	NP_056274.3	WXS	Illumina GAIIx	Phase_I	Q6DD88	ATLA3_HUMAN			12	1573	-			433					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1297G>A	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987629	0.35036	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	D;D;D	0.91631	-2.88;-2.88;-2.88	5.51	-1.41	0.08941	Guanylate-binding protein, C-terminal (3);	0.549004	0.20320	N	0.094644	T	0.72803	0.3506	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.66756	-0.5843	10	0.44086	T	0.13	-19.328	5.9574	0.19281	0.0:0.4376:0.1341:0.4283	.	433	Q6DD88	ATLA3_HUMAN	S	433;460;415	ENSP00000381844:G433S;ENSP00000329034:G460S;ENSP00000437593:G415S	ENSP00000329034:G460S	G	-	1	0	ATL3	63155330	0.000000	0.05858	0.001000	0.08648	0.968000	0.65278	0.473000	0.22132	0.046000	0.15833	0.655000	0.94253	GGT		0.493	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		5	95	5	95	---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767617	65767617	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:65767617C>A	ENST00000312234.2	-	3	437	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|BANF1_ENST00000533166.1_5'Flank|BANF1_ENST00000445560.2_5'Flank|BANF1_ENST00000527348.1_5'Flank|EIF1AD_ENST00000525767.1_De_novo_Start_OutOfFrame|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	35	S1-like. {ECO:0000255|PROSITE- ProRule:PRU00181}.					intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						AGATTGTTCCCTGGGGTCCTG	0.562																																						ENST00000525767.1																			0				lung(5)	5								eukaryotic translation initiation factor 1A domain containing							94.0	86.0	89.0					11																	65767617		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65767617C>A	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.103G>T	11.37:g.65767617C>A	ENSP00000309175:p.Gly35Trp		Somatic				EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000312234.2_Missense_Mutation_p.G35W|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W				WXS	Illumina GAIIx	Phase_I	Q8N9N8	EIF1A_HUMAN			0	137	-								B2R4N5|Q9BSC1	Translation_Start_Site	SNP	ENST00000312234.2	37		CCDS8124.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633289	0.87660	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000529964;ENST00000533544;ENST00000527249;ENST00000530462;ENST00000532707;ENST00000527051	T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91900	0.5531	10	0.87932	D	0	.	16.4684	0.84092	0.0:1.0:0.0:0.0	.	35	Q8N9N8	EIF1A_HUMAN	W	35	ENSP00000436644:G35W;ENSP00000309175:G35W;ENSP00000435942:G35W;ENSP00000434056:G35W;ENSP00000435439:G35W;ENSP00000435891:G35W;ENSP00000433320:G35W;ENSP00000432135:G35W	ENSP00000309175:G35W	G	-	1	0	EIF1AD	65524193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.637000	0.74304	2.488000	0.83962	0.561000	0.74099	GGG		0.562	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		6	78	6	78	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66571471	66571471	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:66571471C>A	ENST00000360962.4	+	9	855	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	283										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GACAGTAGACCAAATTTTGGT	0.358																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(847-849)cCa>cAa		chromosome 11 open reading frame 80							166.0	160.0	162.0					11																	66571471		1943	4128	6071	SO:0001583	missense	79703							g.chr11:66571471C>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.848C>A	11.37:g.66571471C>A	ENSP00000354227:p.Pro283Gln		Somatic				C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q	p.P283Q	NM_024650.3	NP_078926.3	WXS	Illumina GAIIx	Phase_I	Q8N6T0	CK080_HUMAN			9	855	+			128					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.848C>A	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.42|12.42	1.931977|1.931977	0.34096|0.34096	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000524551;ENST00000525908;ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000532089	T;T|.	0.32023|.	1.47;1.52|.	5.5|5.5	3.6|3.6	0.41247|0.41247	.|.	0.387908|.	0.22213|.	N|.	0.063076|.	T|T	0.26231|0.26231	0.0640|0.0640	L|L	0.27053|0.27053	0.805|0.805	0.22511|0.22511	N|N	0.999034|0.999034	B;B;P|.	0.37955|.	0.356;0.356;0.612|.	B;B;B|.	0.33750|.	0.104;0.104;0.169|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.51188|.	T|.	0.08|.	-0.1552|-0.1552	6.7513|6.7513	0.23489|0.23489	0.1754:0.7347:0.0:0.0899|0.1754:0.7347:0.0:0.0899	.|.	65;128;118|.	E9PKM2;Q8N6T0;E9PKZ8|.	.;CK080_HUMAN;.|.	Q|K	65;234;283;129;65;118;118;128|86	ENSP00000432039:P234Q;ENSP00000354227:P283Q|.	ENSP00000317408:P129Q|.	P|Q	+|+	2|1	0|0	C11orf80|C11orf80	66328047|66328047	0.307000|0.307000	0.24500|0.24500	0.611000|0.611000	0.29010|0.29010	0.819000|0.819000	0.46315|0.46315	1.366000|1.366000	0.34193|0.34193	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.358	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		8	214	8	214	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594484	111594484	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:111594484C>A	ENST00000304987.3	+	15	2585	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCTGCCCTCCACTTCCGGTC	0.672																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2410-2412)tcC>tcA		salt-inducible kinase 2							124.0	134.0	131.0					11																	111594484		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594484C>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2412C>A	11.37:g.111594484C>A			Somatic					p.S804S	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			15	2585	+			804					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2412C>A	CCDS8347.1																																																																																				0.672	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		7	234	7	234	---	---	---	---
HMBS	3145	broad.mit.edu	37	11	118960953	118960953	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:118960953C>A	ENST00000278715.3	+	8	627	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000537841.1_Missense_Mutation_p.P142Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	159					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGAAAGTTCCCGCATCTGGAG	0.493																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(424-426)cCg>cAg		hydroxymethylbilane synthase							105.0	110.0	108.0					11																	118960953		2200	4295	6495	SO:0001583	missense	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118960953C>A	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.476C>A	11.37:g.118960953C>A	ENSP00000278715:p.Pro159Gln		Somatic				HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000278715.3_Missense_Mutation_p.P159Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q	p.P142Q			WXS	Illumina GAIIx	Phase_I	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	8	716	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	159					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.425C>A	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498819	0.85069	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D	0.99809	-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86	6.07	5.16	0.70880	Porphobilinogen deaminase, N-terminal (1);	0.045913	0.85682	D	0.000000	D	0.99843	0.9928	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.993;0.999;0.997	D;D;D;D;D	0.83275	0.953;0.996;0.971;0.986;0.983	D	0.96623	0.9461	10	0.87932	D	0	-2.7923	14.2224	0.65836	0.0:0.9293:0.0:0.0707	.	142;142;141;159;159	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	Q	159;142;142;133;159;141;142;142;142;142	ENSP00000278715:P159Q;ENSP00000444730:P142Q;ENSP00000443058:P142Q;ENSP00000445599:P133Q;ENSP00000438424:P159Q;ENSP00000445429:P141Q;ENSP00000440092:P142Q;ENSP00000442079:P142Q;ENSP00000376584:P142Q;ENSP00000392041:P142Q	ENSP00000392041:P142Q	P	+	2	0	CTD-2589C9.4;HMBS	118466163	1.000000	0.71417	0.943000	0.38184	0.590000	0.36582	4.763000	0.62257	1.581000	0.49865	0.655000	0.94253	CCG		0.493	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		5	126	5	126	---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125769839	125769839	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:125769839C>A	ENST00000425380.2	+	3	1357	c.576C>A	c.(574-576)ccC>ccA	p.P192P	HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	192						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGCAGACCCAAGTCCTTTA	0.488																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(574-576)ccC>ccA		hydrolethalus syndrome 1							76.0	78.0	78.0					11																	125769839		2201	4299	6500	SO:0001819	synonymous_variant	219844					centrosome|nucleus		g.chr11:125769839C>A	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.576C>A	11.37:g.125769839C>A			Somatic				HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	p.P192P	NM_001134793.1	NP_001128265.1	WXS	Illumina GAIIx	Phase_I	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1357	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	192					B3KXI8|Q96BX9	Silent	SNP	ENST00000425380.2	37	c.576C>A	CCDS8467.1																																																																																				0.488	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		5	82	5	82	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6700934	6700934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6700934C>A	ENST00000357008.2	-	21	3311	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000309577.6_Missense_Mutation_p.G1050W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1050					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						AATAATTTCCCAGATGCTCTG	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3148-3150)Ggg>Tgg		chromodomain helicase DNA binding protein 4							100.0	95.0	97.0					12																	6700934		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700934C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3148G>T	12.37:g.6700934C>A	ENSP00000349508:p.Gly1050Trp		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.G1050W|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W	p.G1050W			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			21	3311	-			1050					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3148G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554470	0.65425	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99308	1.0903	10	0.87932	D	0	.	18.6149	0.91299	0.0:1.0:0.0:0.0	.	1050;1050;1043	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1047;1043;1050;1050;1024	ENSP00000440392:G1047W;ENSP00000440542:G1043W;ENSP00000312419:G1050W;ENSP00000349508:G1050W	ENSP00000312419:G1050W	G	-	1	0	CHD4	6571195	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	7.792000	0.85828	2.402000	0.81655	0.655000	0.94253	GGG		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		5	84	5	84	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6978334	6978334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6978334G>T	ENST00000229270.4	+	3	759	c.422G>T	c.(421-423)gGg>gTg	p.G141V	TPI1_ENST00000396705.5_Missense_Mutation_p.G104V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000535434.1_Missense_Mutation_p.G22V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	141					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATGTCTTTGGGGAGTCAGAT	0.502											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(421-423)gGg>gTg		triosephosphate isomerase 1							174.0	178.0	177.0					12																	6978334		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6978334G>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.422G>T	12.37:g.6978334G>T	ENSP00000229270:p.Gly141Val		Somatic	OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000535434.1_Missense_Mutation_p.G22V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000396705.5_Missense_Mutation_p.G104V	p.G141V	NM_001159287.1	NP_001152759.1	WXS	Illumina GAIIx	Phase_I	P60174	TPIS_HUMAN			3	759	+			104					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.422G>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369013	0.82463	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.95069	-3.6;-3.6;-3.6	4.77	4.77	0.60923	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	D	0.97374	0.9141	H	0.99182	4.46	0.80722	D	1	P	0.40553	0.721	B	0.42319	0.383	D	0.99360	1.0917	10	0.87932	D	0	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	141	P60174	TPIS_HUMAN	V	141;104;22	ENSP00000229270:G141V;ENSP00000379933:G104V;ENSP00000443599:G22V	ENSP00000229270:G141V	G	+	2	0	TPI1	6848595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.573000	0.98181	2.187000	0.69744	0.462000	0.41574	GGG		0.502	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		7	251	7	251	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295773	7295773	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:7295773C>A	ENST00000266546.6	+	12	2163	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	CLSTN3_ENST00000537408.1_Silent_p.P583P	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACGTGAACCCCTCACAGTCCC	0.622																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1747-1749)ccC>ccA		calsyntenin 3							98.0	90.0	93.0					12																	7295773		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295773C>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1713C>A	12.37:g.7295773C>A			Somatic				CLSTN3_ENST00000266546.6_Silent_p.P571P	p.P583P			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			11	2287	+			571					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1749C>A	CCDS8575.1																																																																																				0.622	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	130	6	130	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9318703	9318703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:9318703C>A	ENST00000261336.2	-	18	2231	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	735	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGCACCGTTTCAGGGACTGGC	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(2203-2205)Gaa>Taa		pregnancy-zone protein							140.0	132.0	134.0					12																	9318703		2203	4300	6503	SO:0001587	stop_gained	5858							g.chr12:9318703C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2203G>T	12.37:g.9318703C>A	ENSP00000261336:p.Glu735*		Somatic				PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	p.E735*	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					18	2231	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	ENST00000261336.2	37	c.2203G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719636	0.96839	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.58	1.71	0.24356	.	0.580119	0.12253	U	0.485481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.0428	0.19744	0.0:0.6379:0.0:0.3621	.	.	.	.	X	735;604	.	ENSP00000261336:E735X	E	-	1	0	PZP	9209970	0.998000	0.40836	0.014000	0.15608	0.377000	0.30045	1.496000	0.35638	0.292000	0.22492	0.467000	0.42956	GAA		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		5	132	5	132	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47471282	47471282	+	5'Flank	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:47471282C>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000266581.4_Missense_Mutation_p.G502W|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TCAGATTTCCCCCTCGTGGAC	0.458																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1504-1506)Ggg>Tgg		adhesion molecule with Ig-like domain 2							70.0	67.0	68.0					12																	47471282		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471282C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471282C>A	Exception_encountered		Somatic				AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W	p.G502W	NM_181847.4	NP_862830.1	WXS	Illumina GAIIx	Phase_I	Q86SJ2	AMGO2_HUMAN			2	1970	-	Renal(347;0.138)|Lung SC(27;0.192)		502					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1504G>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061576	0.36373	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.09	5.09	0.68999	.	0.612070	0.16317	N	0.219754	T	0.27663	0.0680	N	0.14661	0.345	0.25009	N	0.991412	P	0.39831	0.69	B	0.35971	0.215	T	0.14699	-1.0463	10	0.66056	D	0.02	-1.2108	6.7838	0.23662	0.1798:0.726:0.0:0.0942	.	502	Q86SJ2	AMGO2_HUMAN	W	502	ENSP00000266581:G502W;ENSP00000449034:G502W;ENSP00000406020:G502W;ENSP00000320848:G502W	ENSP00000266581:G502W	G	-	1	0	AMIGO2	45757549	0.998000	0.40836	0.685000	0.30070	0.994000	0.84299	1.695000	0.37763	2.745000	0.94114	0.561000	0.74099	GGG		0.458	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		4	30	4	30	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(157-159)ctC>ctG		olfactory receptor, family 6, subfamily C, member 4							170.0	172.0	171.0					12																	55945169		2202	4300	6502	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945169C>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.159C>G	12.37:g.55945169C>G			Somatic				RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.L53L	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	Q8NGE1	OR6C4_HUMAN			1	187	+			53					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.159C>G	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			32	141	32	141	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56088619	56088619	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:56088619G>T	ENST00000555728.1	-	16	2299	c.2271C>A	c.(2269-2271)ctC>ctA	p.L757L	ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000257880.7_Silent_p.L757L|ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L			Q13683	ITA7_HUMAN	integrin, alpha 7	757					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATGACCAGGAGCTGGGCTT	0.657																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2269-2271)ctC>ctA		integrin, alpha 7							64.0	60.0	61.0					12																	56088619		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088619G>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2271C>A	12.37:g.56088619G>T			Somatic				ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L|ITGA7_ENST00000555728.1_Silent_p.L757L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L	p.L757L			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			16	2490	-			757					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2271C>A																																																																																					0.657	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		4	50	4	50	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(559-561)gAa>gGa		helicase (DNA) B							72.0	69.0	70.0					12																	66698883		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698883A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.560A>G	12.37:g.66698883A>G	ENSP00000247815:p.Glu187Gly		Somatic					p.E187G	NM_033647.3	NP_387467.2	WXS	Illumina GAIIx	Phase_I	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	619	+			187					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.560A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.736080	0.30774	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	4.54	3.42	0.39159	.	1.406020	0.04460	N	0.374339	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.14420	-1.0473	9	.	.	.	-2.2485	8.088	0.30784	0.9016:0.0:0.0984:0.0	.	187	Q8NG08	HELB_HUMAN	G	187	ENSP00000247815:E187G	.	E	+	2	0	HELB	64985150	0.001000	0.12720	0.009000	0.14445	0.005000	0.04900	1.329000	0.33770	2.030000	0.59900	0.454000	0.30748	GAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			10	72	10	72	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97051751	97051751	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:97051751C>A	ENST00000524981.4	+	37	5215	c.5192C>A	c.(5191-5193)cCt>cAt	p.P1731H				Q96N23	CL055_HUMAN		0																	TTTGAGCATCCTTTGGATGAT	0.358																																						ENST00000524981.4																			0											c.(5191-5193)cCt>cAt		chromosome 12 open reading frame 55							145.0	151.0	149.0					12																	97051751		2203	4300	6503	SO:0001583	missense	144535							g.chr12:97051751C>A																												ENST00000524981.4:c.5192C>A	12.37:g.97051751C>A	ENSP00000431759:p.Pro1731His		Somatic					p.P1731H			WXS	Illumina GAIIx	Phase_I					37	5215	+									Missense_Mutation	SNP	ENST00000524981.4	37	c.5192C>A		.	.	.	.	.	.	.	.	.	.	C	16.87	3.241755	0.58995	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	4.14	0.48551	.	0.000000	0.64402	D	0.000020	T	0.49133	0.1539	L	0.47716	1.5	0.37576	D	0.919615	P	0.37176	0.586	B	0.32583	0.148	T	0.56135	-0.8029	9	0.39692	T	0.17	-16.2877	15.1529	0.72717	0.1424:0.8576:0.0:0.0	.	156	Q6ZTY8	CL063_HUMAN	H	1731;156	.	ENSP00000345466:P156H	P	+	2	0	C12orf63	95575882	0.989000	0.36119	1.000000	0.80357	0.959000	0.62525	1.521000	0.35910	1.237000	0.43756	0.462000	0.41574	CCT		0.358	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			6	159	6	159	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104071351	104071351	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:104071351C>A	ENST00000388887.2	+	25	2971	c.2767C>A	c.(2767-2769)Cac>Aac	p.H923N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGCGGCTGCCACGACAACGC	0.582																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2767-2769)Cac>Aac		stabilin 2							79.0	80.0	80.0					12																	104071351		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104071351C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2767C>A	12.37:g.104071351C>A	ENSP00000373539:p.His923Asn		Somatic					p.H923N	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			25	2971	+			923			EGF-like 9.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2767C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889292	0.52014	.	.	ENSG00000136011	ENST00000388887	T	0.67523	-0.27	5.55	5.55	0.83447	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.81614	2.55	0.42359	D	0.992401	D	0.69078	0.997	D	0.77004	0.989	T	0.80924	-0.1165	10	0.32370	T	0.25	.	18.2638	0.90044	0.0:1.0:0.0:0.0	.	923	Q8WWQ8	STAB2_HUMAN	N	923	ENSP00000373539:H923N	ENSP00000373539:H923N	H	+	1	0	STAB2	102595481	1.000000	0.71417	0.992000	0.48379	0.105000	0.19272	5.217000	0.65252	2.623000	0.88846	0.563000	0.77884	CAC		0.582	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	120	5	120	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133311997	133311997	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:133311997C>A	ENST00000357997.5	-	9	1784	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V	ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.V503V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	565					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGTACCTTCCCACTCTCTCAA	0.493																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1507-1509)gtG>gtT		ankyrin repeat and LEM domain containing 2							114.0	123.0	120.0					12																	133311997		2096	4230	6326	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133311997C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1695G>T	12.37:g.133311997C>A			Somatic				ANKLE2_ENST00000357997.5_Silent_p.V565V|ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR	p.V503V			WXS	Illumina GAIIx	Phase_I	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	8	8193	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	565					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.1509G>T	CCDS41869.1																																																																																				0.493	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			6	124	6	124	---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24234605	24234605	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:24234605C>A	ENST00000382258.4	+	7	916	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.R238S	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	238					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(712-714)Cgc>Agc		tumor necrosis factor receptor superfamily, member 19							59.0	48.0	52.0					13																	24234605		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24234605C>A	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.712C>A	13.37:g.24234605C>A	ENSP00000371693:p.Arg238Ser		Somatic				TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.R238S	p.R238S	NM_001204458.1	NP_001191387.1	WXS	Illumina GAIIx	Phase_I	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	7	896	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	238					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.712C>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896333	0.33442	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.33	5.33	0.75918	.	0.674216	0.16513	N	0.211160	T	0.16257	0.0391	N	0.14661	0.345	0.34191	D	0.672038	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.22753	0.041;0.033;0.033	T	0.14755	-1.0461	10	0.34782	T	0.22	-5.5292	19.384	0.94550	0.0:1.0:0.0:0.0	.	106;238;238	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	S	238;106;238;238	ENSP00000248484:R238S;ENSP00000385408:R106S;ENSP00000371693:R238S;ENSP00000371698:R238S	ENSP00000248484:R238S	R	+	1	0	TNFRSF19	23132605	0.677000	0.27577	0.475000	0.27278	0.127000	0.20565	4.308000	0.59129	2.653000	0.90120	0.650000	0.86243	CGC		0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		3	20	3	20	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559748	46559748	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:46559748C>A	ENST00000242848.4	-	10	1752	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTAGTTCCCTTCGGTCCC	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1402-1404)agG>agT		zinc finger CCCH-type containing 13							210.0	201.0	204.0					13																	46559748		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559748C>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1404G>T	13.37:g.46559748C>A	ENSP00000242848:p.Arg468Ser		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S	p.R468S			WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1752	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	468			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1404G>T		.	.	.	.	.	.	.	.	.	.	C	14.69	2.609367	0.46527	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35605	2.26;1.3	5.82	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.25044	0.0608	N	0.20986	0.625	0.80722	D	1	B;P	0.36837	0.435;0.571	B;B	0.30855	0.057;0.121	T	0.04900	-1.0919	10	0.49607	T	0.09	.	15.1013	0.72279	0.0:0.932:0.0:0.068	.	468;468	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	468;468;284	ENSP00000242848:R468S;ENSP00000282007:R468S	ENSP00000242848:R468S	R	-	3	2	ZC3H13	45457749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.434000	0.52841	1.464000	0.47987	0.655000	0.94253	AGG		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		6	148	6	148	---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000545453.1_Missense_Mutation_p.R248K|DIS3_ENST00000377780.4_Missense_Mutation_p.R380K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	410					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1228-1230)aGa>aAa		DIS3 mitotic control homolog (S. cerevisiae)							90.0	89.0	90.0					13																	73347832		2202	4300	6502	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73347832C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1229G>A	13.37:g.73347832C>T	ENSP00000366997:p.Arg410Lys	Multiple Myeloma(4;0.011)	Somatic				DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	p.R410K	NM_014953.3	NP_055768.3	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	8	1329	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	410					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1229G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243153	0.79912	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.20881	2.04;2.04;2.04	5.49	4.65	0.58169	.	0.040366	0.85682	N	0.000000	T	0.26593	0.0650	L	0.37897	1.145	0.80722	D	1	P;P	0.39862	0.692;0.565	P;B	0.51266	0.664;0.217	T	0.02371	-1.1169	10	0.11485	T	0.65	.	14.6692	0.68932	0.0:0.9297:0.0:0.0703	.	380;410	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	410;380;248	ENSP00000366997:R410K;ENSP00000367011:R380K;ENSP00000440058:R248K	ENSP00000366997:R410K	R	-	2	0	DIS3	72245833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.466000	0.48025	0.650000	0.86243	AGA		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		10	42	10	42	---	---	---	---
TSSK4	283629	broad.mit.edu	37	14	24676531	24676531	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:24676531C>A	ENST00000287913.6	+	3	788	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.P217Q|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACGCTTGCCCAGAGATCTTA	0.537																																						ENST00000339917.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(649-651)cCa>cAa		testis-specific serine kinase 4							187.0	148.0	161.0					14																	24676531		2203	4300	6503	SO:0001583	missense	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24676531C>A	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.620C>A	14.37:g.24676531C>A	ENSP00000287913:p.Pro207Gln		Somatic				TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.P207Q|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron	p.P217Q	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	WXS	Illumina GAIIx	Phase_I	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	854	+			207			Protein kinase.		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	c.650C>A	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.747606|3.747606	0.69533|0.69533	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913|ENST00000553766	T;T;T|.	0.75367|.	-0.93;-0.93;-0.93|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.112974|.	0.40554|.	N|.	0.001076|.	D|D	0.87410|0.87410	0.6170|0.6170	H|H	0.96398|0.96398	3.815|3.815	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.90894|0.90894	0.4763|0.4763	10|5	0.87932|.	D|.	0|.	.|.	15.8589|15.8589	0.79008|0.79008	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217;207;137|.	Q6SA08-2;Q6SA08;Q8IZN1|.	.;TSSK4_HUMAN;.|.	Q|K	217;131;207|24	ENSP00000339179:P217Q;ENSP00000452054:P131Q;ENSP00000287913:P207Q|.	ENSP00000287913:P207Q|.	P|Q	+|+	2|1	0|0	TSSK4|TSSK4	23746371|23746371	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.959000|0.959000	0.62525|0.62525	6.253000|6.253000	0.72453|0.72453	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.537	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		5	136	5	136	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105361070	105361070	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105361070C>A	ENST00000414716.3	+	19	4668	c.4440C>A	c.(4438-4440)ccC>ccA	p.P1480P	CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000453495.1_Silent_p.P1516P|CEP170B_ENST00000556508.1_Silent_p.P1445P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1515						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TCGTGGACCCCAGTGGGAGCC	0.657																																						ENST00000453495.1																			0											c.(4546-4548)ccC>ccA		centrosomal protein 170B							52.0	59.0	57.0					14																	105361070		2030	4189	6219	SO:0001819	synonymous_variant	283638							g.chr14:105361070C>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4440C>A	14.37:g.105361070C>A			Somatic				CEP170B_ENST00000414716.3_Silent_p.P1480P|CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000556508.1_Silent_p.P1445P	p.P1516P			WXS	Illumina GAIIx	Phase_I					19	4776	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4548C>A	CCDS45175.1																																																																																				0.657	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		5	76	5	76	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105418916	105418916	+	Nonsense_Mutation	SNP	C	C	A	rs370824335		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105418916C>A	ENST00000333244.5	-	7	2991	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	958						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)				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)			AGAGACACCTCGCCATCGGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2872-2874)Gag>Tag		AHNAK nucleoprotein 2							152.0	177.0	169.0					14																	105418916		1992	4152	6144	SO:0001587	stop_gained	113146					nucleus		g.chr14:105418916C>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.2872G>T	14.37:g.105418916C>A	ENSP00000353114:p.Glu958*		Somatic				AHNAK2_ENST00000557457.1_Intron	p.E958*	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	2991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	958					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.2872G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	38	7.159623	0.98103	.	.	ENSG00000185567	ENST00000333244	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.0193	0.14352	0.0:0.6534:0.2198:0.1268	.	.	.	.	X	958	.	ENSP00000353114:E958X	E	-	1	0	AHNAK2	104489961	0.028000	0.19301	0.002000	0.10522	0.004000	0.04260	1.031000	0.30165	1.350000	0.45770	0.313000	0.20887	GAG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	342	7	342	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25436497	25436497	+	RNA	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:25436497G>T	ENST00000424208.1	+	0	1092				SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTGAGCTGCGGTGAGCCTAT	0.607																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25436497G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436497G>T			Somatic				SNHG14_ENST00000414175.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.607	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			5	143	5	143	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42110410	42110410	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:42110410G>T	ENST00000456763.2	+	19	2213	c.2017G>T	c.(2017-2019)Ggg>Tgg	p.G673W	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G667W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	673										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACCCCTCAGGGATCTACAT	0.582																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1999-2001)Ggg>Tgg		mitogen-activated protein kinase binding protein 1							110.0	94.0	100.0					15																	42110410		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42110410G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2017G>T	15.37:g.42110410G>T	ENSP00000393099:p.Gly673Trp		Somatic				MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G673W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W	p.G667W	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	18	2285	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	673					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1999G>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.723245	0.89298	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.74002	1.0;1.0;0.26;-0.8;0.26	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;1.0;1.0;0.998	D	0.92146	0.5724	10	0.87932	D	0	-20.5754	19.1091	0.93310	0.0:0.0:1.0:0.0	.	506;550;667;673;667	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	W	667;550;506;673;667	ENSP00000397570:G667W;ENSP00000221214:G550W;ENSP00000260357:G506W;ENSP00000393099:G673W;ENSP00000426154:G667W	ENSP00000221214:G550W	G	+	1	0	MAPKBP1	39897702	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	9.866000	0.99616	2.505000	0.84491	0.462000	0.41574	GGG		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	75	5	75	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45409938	45409938	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:45409938G>T	ENST00000323030.5	+	6	1079	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Silent_p.P409P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	265					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCCTCGGAGGGGCCGTGGTG	0.622																																						ENST00000323030.5																			0											c.(793-795)gGg>gTg		dual oxidase maturation factor 2							68.0	67.0	67.0					15																	45409938		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45409938G>T	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.794G>T	15.37:g.45409938G>T	ENSP00000319705:p.Gly265Val		Somatic				DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000267803.4_Silent_p.P409P	p.G265V	NM_207581.3	NP_997464.2	WXS	Illumina GAIIx	Phase_I	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1079	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	265					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.794G>T	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	7.049	0.564096	0.13498	.	.	ENSG00000140274	ENST00000323030	T	0.48836	0.8	5.46	-0.0258	0.13933	.	0.847741	0.10969	N	0.614022	T	0.25082	0.0609	N	0.16602	0.42	0.19575	N	0.999969	B	0.14438	0.01	B	0.17722	0.019	T	0.28396	-1.0045	10	0.05721	T	0.95	.	8.3085	0.32058	0.0:0.2555:0.3194:0.4251	.	265	Q1HG44	DOXA2_HUMAN	V	265	ENSP00000319705:G265V	ENSP00000319705:G265V	G	+	2	0	DUOXA2	43197230	0.005000	0.15991	0.004000	0.12327	0.707000	0.40811	-0.326000	0.07965	-0.260000	0.09418	0.561000	0.74099	GGG		0.622	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		6	104	6	104	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53992138	53992138	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:53992138C>A	ENST00000396328.1	-	13	1813	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M	WDR72_ENST00000557913.1_Missense_Mutation_p.R522M|WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	525										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTGCTCACCCCTTAGCTGTGA	0.413																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1573-1575)aGg>aTg		WD repeat domain 72							85.0	89.0	87.0					15																	53992138		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992138C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1574G>T	15.37:g.53992138C>A	ENSP00000379619:p.Arg525Met		Somatic				WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M|WDR72_ENST00000557913.1_Missense_Mutation_p.R522M	p.R525M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	WXS	Illumina GAIIx	Phase_I	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1813	-			525					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1574G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430521	0.43122	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39787	1.06;1.06	5.57	3.31	0.37934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.305933	0.32488	N	0.006022	T	0.31167	0.0788	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29058	-1.0024	10	0.66056	D	0.02	.	2.5451	0.04735	0.269:0.5127:0.0:0.2182	.	525	Q3MJ13	WDR72_HUMAN	M	525	ENSP00000379619:R525M;ENSP00000353699:R525M	ENSP00000353699:R525M	R	-	2	0	WDR72	51779430	0.074000	0.21230	0.089000	0.20774	0.553000	0.35397	1.521000	0.35910	1.490000	0.48466	-0.152000	0.13540	AGG		0.413	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		5	103	5	103	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63928257	63928257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:63928257C>A	ENST00000443617.2	-	65	12404	c.12317G>T	c.(12316-12318)tGg>tTg	p.W4106L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4106					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCATCTCCCCAGCTAAAGAC	0.552																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(12316-12318)tGg>tTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							201.0	201.0	201.0					15																	63928257		2050	4199	6249	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63928257C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12317G>T	15.37:g.63928257C>A	ENSP00000390158:p.Trp4106Leu		Somatic					p.W4106L	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			65	12404	-			4106					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12317G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287588	0.95517	.	.	ENSG00000103657	ENST00000443617	D	0.92199	-2.99	5.58	5.58	0.84498	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96576	3.845	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.98448	1.0590	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	4106	Q15751	HERC1_HUMAN	L	4106	ENSP00000390158:W4106L	ENSP00000390158:W4106L	W	-	2	0	HERC1	61715310	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	TGG		0.552	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	288	6	288	---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65041350	65041350	+	Splice_Site	SNP	C	C	A	rs113425903		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:65041350C>A	ENST00000300069.4	-	5	535		c.e5-1		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGCGAATACCCTACATGGGTA	0.498																																						ENST00000300069.4																			0				breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.e5-1		RNA binding protein with multiple splicing 2							124.0	117.0	119.0					15																	65041350		2202	4299	6501	SO:0001630	splice_region_variant	348093						nucleic acid binding|nucleotide binding	g.chr15:65041350C>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.268-1G>T	15.37:g.65041350C>A			Somatic				RBPMS2_ENST00000560606.1_Splice_Site		NM_194272.1	NP_919248.1	WXS	Illumina GAIIx	Phase_I	Q6ZRY4	RBPS2_HUMAN			5	535	-								A2RRG0	Splice_Site	SNP	ENST00000300069.4	37		CCDS32271.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153513	0.38021	.	.	ENSG00000166831	ENST00000300069	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1468	0.86768	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBPMS2	62828403	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	7.800000	0.85949	2.454000	0.82982	0.462000	0.41574	.		0.498	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		Intron	5	117	5	117	---	---	---	---
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1123-1125)Ctc>Ttc		ADP-dependent glucokinase							88.0	86.0	86.0					15																	73045050		1999	4165	6164	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045050G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1123C>T	15.37:g.73045050G>A	ENSP00000312250:p.Leu375Phe		Somatic				ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	p.L375F	NM_031284.4	NP_112574.3	WXS	Illumina GAIIx	Phase_I	Q9BRR6	ADPGK_HUMAN			7	1216	-			376			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1123C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641641	0.87859	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.58506	0.33;0.33	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	T	0.80103	-0.1522	10	0.59425	D	0.04	-30.886	20.5407	0.99260	0.0:0.0:1.0:0.0	.	318;376;375;101	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	F	375;295;101;254	ENSP00000312250:L375F;ENSP00000397694:L101F	ENSP00000312250:L375F	L	-	1	0	ADPGK	70832103	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CTC		0.552	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		11	57	11	57	---	---	---	---
LOXL1	4016	broad.mit.edu	37	15	74235269	74235269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:74235269C>A	ENST00000261921.7	+	2	1503	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	393	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTGTACTCCCTGCGCTGTGC	0.592																																						ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1177-1179)Ctg>Atg		lysyl oxidase-like 1							182.0	170.0	174.0					15																	74235269		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74235269C>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1177C>A	15.37:g.74235269C>A	ENSP00000261921:p.Leu393Met		Somatic					p.L393M	NM_005576.2	NP_005567.2	WXS	Illumina GAIIx	Phase_I	Q08397	LOXL1_HUMAN			2	1503	+			393			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1177C>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032065	0.54790	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.46451	0.87	3.91	-0.179	0.13299	.	0.000000	0.64402	D	0.000005	T	0.61110	0.2321	M	0.84433	2.695	0.49687	D	0.999811	D	0.89917	1.0	D	0.91635	0.999	T	0.61093	-0.7132	10	0.87932	D	0	.	7.5261	0.27656	0.0:0.5644:0.0:0.4356	.	393	Q08397	LOXL1_HUMAN	M	393;255	ENSP00000261921:L393M	ENSP00000261921:L393M	L	+	1	2	LOXL1	72022322	0.510000	0.26171	0.987000	0.45799	0.985000	0.73830	1.480000	0.35464	0.084000	0.17077	-0.254000	0.11334	CTG		0.592	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		6	149	6	149	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91461494	91461494	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:91461494C>A	ENST00000559717.1	+	21	3524	c.3065C>A	c.(3064-3066)cCg>cAg	p.P1022Q	MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.P1022Q			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1022					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAACGCCCCGGCGCTCGCT	0.592																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3064-3066)cCg>cAg		mannosidase, alpha, class 2A, member 2							129.0	119.0	122.0					15																	91461494		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91461494C>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3065C>A	15.37:g.91461494C>A	ENSP00000452948:p.Pro1022Gln		Somatic				MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022Q|MAN2A2_ENST00000558538.1_3'UTR	p.P1022Q	NM_006122.2	NP_006113.2	WXS	Illumina GAIIx	Phase_I	P49641	MA2A2_HUMAN	Lung(145;0.229)		20	3083	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1022					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3065C>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564547	0.27915	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.94931	-3.56;-3.56;-3.56	5.58	4.67	0.58626	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.224074	0.45361	D	0.000365	D	0.96116	0.8734	M	0.73217	2.22	0.35458	D	0.796268	D;D;D	0.65815	0.995;0.995;0.976	D;D;P	0.68621	0.944;0.959;0.908	D	0.97938	1.0324	10	0.56958	D	0.05	-18.6596	9.962	0.41701	0.1677:0.7587:0.0:0.0736	.	530;650;1022	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	Q	1022;530;212	ENSP00000353655:P1022Q;ENSP00000388221:P530Q;ENSP00000394372:P212Q	ENSP00000353655:P1022Q	P	+	2	0	MAN2A2	89262498	0.118000	0.22208	0.141000	0.22245	0.011000	0.07611	1.430000	0.34914	1.525000	0.49052	-0.222000	0.12452	CCG		0.592	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		5	111	5	111	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C	rs575758267		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													T|||	0	0.0	0.0	0.0	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0					ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1219-1221)aAc>aGc		transmembrane protein 8A							40.0	37.0	38.0					16																	426140		2199	4299	6498	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426140T>C	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1220A>G	16.37:g.426140T>C	ENSP00000401338:p.Asn407Ser		Somatic				TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	p.N407S	NM_021259.2	NP_067082.2	WXS	Illumina GAIIx	Phase_I	Q9HCN3	TMM8A_HUMAN			6	1380	-			407					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.1220A>G	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347797	0.61183	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.34667	1.79;1.35	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	M	0.80746	2.51	0.80722	D	1	D	0.67145	0.996	P	0.54210	0.745	T	0.63097	-0.6713	10	0.72032	D	0.01	-11.803	14.6721	0.68951	0.0:0.0:0.0:1.0	.	407	Q9HCN3	TMM8A_HUMAN	S	407;214	ENSP00000401338:N407S;ENSP00000250930:N214S	ENSP00000250930:N214S	N	-	2	0	TMEM8A	366141	1.000000	0.71417	0.978000	0.43139	0.078000	0.17371	4.400000	0.59709	2.054000	0.61138	0.533000	0.62120	AAC		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	24	4	24	---	---	---	---
C16orf59	80178	broad.mit.edu	37	16	2511086	2511086	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:2511086C>A	ENST00000361837.4	+	4	531	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCTGAGCGCCGGCTGCTGTC	0.697																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(466-468)Cgg>Agg		chromosome 16 open reading frame 59							27.0	32.0	30.0					16																	2511086		1962	4137	6099	SO:0001819	synonymous_variant	80178							g.chr16:2511086C>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.466C>A	16.37:g.2511086C>A			Somatic				C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R	p.R156R			WXS	Illumina GAIIx	Phase_I	Q7L2K0	CP059_HUMAN			4	525	+		Ovarian(90;0.17)	156					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.466C>A	CCDS10468.2																																																																																				0.697	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		4	56	4	56	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4163968	4163968	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:4163968C>A	ENST00000294016.3	-	2	2014	c.1476G>T	c.(1474-1476)acG>acT	p.T492T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	492	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGACGGTGCCCGTGTGCACCC	0.567																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1474-1476)acG>acT		adenylate cyclase 9							115.0	121.0	119.0					16																	4163968		2197	4300	6497	SO:0001819	synonymous_variant	115				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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163968C>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1476G>T	16.37:g.4163968C>A			Somatic					p.T492T	NM_001116.3	NP_001107.2	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			2	2014	-			492			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1476G>T	CCDS32382.1																																																																																				0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	208	7	208	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11012370	11012370	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:11012370C>A	ENST00000324288.8	+	16	3269	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1046					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGCTGCATCCCTGCTCAGGCT	0.657			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3136-3138)Ctg>Atg		class II, major histocompatibility complex, transactivator							129.0	125.0	126.0					16																	11012370		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11012370C>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3136C>A	16.37:g.11012370C>A	ENSP00000316328:p.Leu1046Met		Somatic	OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	669	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	p.L1046M	NM_000246.3	NP_000237	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			16	3269	+			1046					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.3136C>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844138	0.51164	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.79454	-0.89;-1.27	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000071	D	0.87908	0.6296	M	0.87971	2.92	0.34871	D	0.743617	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.984	D	0.91816	0.5463	10	0.62326	D	0.03	.	9.5985	0.39589	0.0:0.9038:0.0:0.0962	.	462;1046;1046	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	M	1046;462	ENSP00000316328:L1046M;ENSP00000371257:L462M	ENSP00000316328:L1046M	L	+	1	2	CIITA	10919871	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	2.527000	0.45615	2.327000	0.79052	0.561000	0.74099	CTG		0.657	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		9	209	9	209	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20682907	20682907	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:20682907G>T	ENST00000307493.4	-	4	765	c.698C>A	c.(697-699)cCc>cAc	p.P233H	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	233					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGCCATCTTGGGGAAGCCTGT	0.542																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(697-699)cCc>cAc		acyl-CoA synthetase medium-chain family member 1							121.0	100.0	107.0					16																	20682907		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682907G>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.698C>A	16.37:g.20682907G>T	ENSP00000301956:p.Pro233His		Somatic				ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H|ACSM1_ENST00000219151.4_5'UTR	p.P233H	NM_052956.2	NP_443188.2	WXS	Illumina GAIIx	Phase_I	Q08AH1	ACSM1_HUMAN			4	765	-			233					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.698C>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843092	0.51057	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	D;D	0.85013	-1.93;-1.93	4.95	3.98	0.46160	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.136793	0.34200	N	0.004161	D	0.93413	0.7899	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94031	0.7301	10	0.87932	D	0	.	11.4185	0.49967	0.0899:0.0:0.9101:0.0	.	233	Q08AH1	ACSM1_HUMAN	H	233	ENSP00000301956:P233H;ENSP00000428047:P233H	ENSP00000301956:P233H	P	-	2	0	ACSM1	20590408	1.000000	0.71417	0.996000	0.52242	0.483000	0.33249	3.276000	0.51646	2.567000	0.86603	0.603000	0.83216	CCC		0.542	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		5	68	5	68	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23692271	23692271	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:23692271G>T	ENST00000300093.4	+	3	725	c.614G>T	c.(613-615)gGg>gTg	p.G205V	PLK1_ENST00000564202.1_Intron	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	205	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAATATGACGGGGAGAGGAAG	0.522																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(613-615)gGg>gTg		polo-like kinase 1							148.0	141.0	143.0					16																	23692271		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23692271G>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.614G>T	16.37:g.23692271G>T	ENSP00000300093:p.Gly205Val		Somatic				PLK1_ENST00000564202.1_Intron	p.G205V	NM_005030.3	NP_005021.2	WXS	Illumina GAIIx	Phase_I	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	3	725	+			205			Activation loop.|Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.614G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723365	0.89298	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.66099	-0.19	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	L	0.35793	1.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74839	-0.3528	10	0.87932	D	0	-24.4039	16.8166	0.85735	0.0:0.0:1.0:0.0	.	205	P53350	PLK1_HUMAN	V	205;108;205	ENSP00000300093:G205V	ENSP00000300093:G205V	G	+	2	0	PLK1	23599772	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.415000	0.97375	2.559000	0.86315	0.561000	0.74099	GGG		0.522	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		7	157	7	157	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)gCc>gTc		NLR family, CARD domain containing 5							106.0	94.0	98.0					16																	57116361		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116361C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5522C>T	16.37:g.57116361C>T	ENSP00000262510:p.Ala1841Val		Somatic				NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	p.A1841V	NM_032206.4	NP_115582.4	WXS	Illumina GAIIx	Phase_I	Q86WI3	NLRC5_HUMAN			49	5747	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5522C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954146	0.34471	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.52295	0.67;0.67;0.67	4.47	1.33	0.21861	.	0.898467	0.09038	N	0.857661	T	0.42291	0.1196	M	0.64630	1.985	0.58432	D	0.999999	B	0.29508	0.246	B	0.28305	0.088	T	0.16012	-1.0417	10	0.34782	T	0.22	.	6.4729	0.22018	0.0:0.6635:0.0:0.3365	.	1841	Q86WI3	NLRC5_HUMAN	V	1841;1812;1812	ENSP00000262510:A1841V;ENSP00000308886:A1812V;ENSP00000441727:A1812V	ENSP00000262510:A1841V	A	+	2	0	NLRC5	55673862	0.996000	0.38824	0.687000	0.30102	0.008000	0.06430	0.459000	0.21908	0.083000	0.17047	-0.213000	0.12676	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		12	62	12	62	---	---	---	---
ATP6V0D1	9114	broad.mit.edu	37	16	67514914	67514914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:67514914C>A	ENST00000290949.3	-	1	226	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	26					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGAGCACCCCGGCCTTCAGG	0.662																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(76-78)Ggg>Tgg		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							51.0	52.0	52.0					16																	67514914		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514914C>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.76G>T	16.37:g.67514914C>A	ENSP00000290949:p.Gly26Trp		Somatic				ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W	p.G26W	NM_004691.4	NP_004682.2	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	226	-		Ovarian(137;0.0563)	26					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.76G>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644939	0.96704	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.33438	1.41;1.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-18.892	18.8691	0.92306	0.0:1.0:0.0:0.0	.	26;26	F5GYQ1;P61421	.;VA0D1_HUMAN	W	26	ENSP00000290949:G26W;ENSP00000441282:G26W	ENSP00000290949:G26W	G	-	1	0	ATP6V0D1	66072415	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.695000	0.84257	2.808000	0.96608	0.655000	0.94253	GGG		0.662	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	62	4	62	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821572	72821572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:72821572C>A	ENST00000268489.5	-	10	11275	c.10603G>T	c.(10603-10605)Gag>Tag	p.E3535*	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3535					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCGCGCTCTCGCACGCCAGG	0.692																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10603-10605)Gag>Tag		zinc finger homeobox 3							165.0	133.0	143.0					16																	72821572		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821572C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10603G>T	16.37:g.72821572C>A	ENSP00000268489:p.Glu3535*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	p.E3535*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	11275	-		Ovarian(137;0.13)	3535					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.10603G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	54	22.979999	0.99952	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	4.22	4.22	0.49857	.	0.000000	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.949	0.86239	0.0:1.0:0.0:0.0	.	.	.	.	X	3535;2621	.	ENSP00000268489:E3535X	E	-	1	0	ZFHX3	71379073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.753000	0.62183	2.058000	0.61347	0.557000	0.71058	GAG		0.692	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	87	4	87	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4443698	4443698	+	Missense_Mutation	SNP	C	C	A	rs150092179		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:4443698C>A	ENST00000254718.4	-	25	3685	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1127					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGCTGGAGCCGGTGGAGTGT	0.642																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3379-3381)Ggc>Tgc		MYB binding protein (P160) 1a							58.0	56.0	57.0					17																	4443698		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443698C>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3379G>T	17.37:g.4443698C>A	ENSP00000254718:p.Gly1127Cys		Somatic				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C	p.G1127C			WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			25	3685	-			1127					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3379G>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763657	0.69878	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.19669	2.13;2.13	4.73	2.63	0.31362	.	0.743675	0.13485	N	0.384367	T	0.28433	0.0703	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.68039	0.902;0.955	T	0.07195	-1.0785	10	0.62326	D	0.03	-30.1856	4.8534	0.13547	0.2076:0.6754:0.0:0.1171	.	1127;1127	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	C	1127	ENSP00000370968:G1127C;ENSP00000254718:G1127C	ENSP00000254718:G1127C	G	-	1	0	MYBBP1A	4390447	0.002000	0.14202	0.018000	0.16275	0.530000	0.34684	1.014000	0.29950	0.628000	0.30357	0.555000	0.69702	GGC		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	42	4	42	---	---	---	---
SLC25A11	8402	broad.mit.edu	37	17	4841355	4841355	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:4841355C>A	ENST00000225665.7	-	7	1092	c.752G>T	c.(751-753)cGg>cTg	p.R251L	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	251					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						ATCAATCATCCGCATGTTCTG	0.622																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(751-753)cGg>cTg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							139.0	143.0	142.0					17																	4841355		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841355C>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.752G>T	17.37:g.4841355C>A	ENSP00000225665:p.Arg251Leu		Somatic				SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L	p.R251L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	WXS	Illumina GAIIx	Phase_I	Q02978	M2OM_HUMAN			7	1092	-			251					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.752G>T	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947626	0.53186	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	T;T	0.78816	-1.21;-1.21	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.121275	0.56097	D	0.000039	T	0.75236	0.3822	L	0.49513	1.565	0.44927	D	0.997942	P;P	0.38978	0.652;0.652	B;B	0.41088	0.347;0.347	T	0.78355	-0.2236	10	0.72032	D	0.01	-16.7622	13.8353	0.63406	0.0:1.0:0.0:0.0	.	251;251	Q6IBH0;Q02978	.;M2OM_HUMAN	L	251;200	ENSP00000225665:R251L;ENSP00000440804:R200L	ENSP00000225665:R251L	R	-	2	0	SLC25A11	4782100	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.082000	0.57635	2.637000	0.89404	0.655000	0.94253	CGG		0.622	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		4	137	4	137	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27613720	27613720	+	Missense_Mutation	SNP	C	C	A	rs566984055		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:27613720C>A	ENST00000225388.4	-	2	1350	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	431						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGGCTGACCCCCTGGAGGATA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18727	0.0		0.0	False		,,,				2504	0.0					ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1291-1293)gGg>gTg		nuclear fragile X mental retardation protein interacting protein 2							65.0	65.0	65.0					17																	27613720		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613720C>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1292G>T	17.37:g.27613720C>A	ENSP00000225388:p.Gly431Val		Somatic				NUFIP2_ENST00000579665.1_Intron	p.G431V	NM_020772.2	NP_065823.1	WXS	Illumina GAIIx	Phase_I	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1350	-			431					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1292G>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	6.269	0.417693	0.11870	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	4.18	0.49190	.	0.251449	0.35096	N	0.003446	T	0.42314	0.1197	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.17722	0.019	T	0.30736	-0.9968	9	0.66056	D	0.02	-21.2276	10.7901	0.46428	0.0:0.8009:0.1307:0.0684	.	431	Q7Z417	NUFP2_HUMAN	V	431	.	ENSP00000225388:G431V	G	-	2	0	NUFIP2	24637846	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.283000	0.43470	0.916000	0.36871	0.655000	0.94253	GGG		0.468	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		5	55	5	55	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28599836	28599836	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:28599836C>A	ENST00000261714.6	-	8	1057	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	295					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTTTTTCTCCCTCCAACCATA	0.403																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(883-885)Ggg>Tgg		bleomycin hydrolase							197.0	186.0	190.0					17																	28599836		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28599836C>A	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.883G>T	17.37:g.28599836C>A	ENSP00000261714:p.Gly295Trp		Somatic				BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	p.G295W	NM_000386.3	NP_000377.1	WXS	Illumina GAIIx	Phase_I	Q13867	BLMH_HUMAN			8	1057	-			295					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.883G>T	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642939	0.87859	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.57436	0.4;0.4	5.67	5.67	0.87782	.	0.194051	0.53938	D	0.000041	T	0.76557	0.4004	H	0.95504	3.68	0.80722	D	1	D;P	0.54964	0.969;0.925	P;P	0.54026	0.74;0.508	D	0.84108	0.0399	10	0.87932	D	0	-10.1206	16.9941	0.86362	0.0:1.0:0.0:0.0	.	208;295	E7EMN3;Q13867	.;BLMH_HUMAN	W	295;208	ENSP00000261714:G295W;ENSP00000378296:G208W	ENSP00000261714:G295W	G	-	1	0	BLMH	25623962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.683000	0.91414	0.650000	0.86243	GGG		0.403	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		5	99	5	99	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690684	33690684	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:33690684C>A	ENST00000394566.1	-	4	415	c.143G>T	c.(142-144)cGg>cTg	p.R48L	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	48					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGCAGCCCGCATAACTCT	0.458																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(142-144)cGg>cTg		schlafen family member 11							138.0	140.0	139.0					17																	33690684		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690684C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.143G>T	17.37:g.33690684C>A	ENSP00000378067:p.Arg48Leu		Somatic				SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	p.R48L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	WXS	Illumina GAIIx	Phase_I	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	415	-		Ovarian(249;0.17)	48					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.143G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473976	0.26423	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.23950	4.46;4.46;1.88;2.21;1.88	4.0	-0.254	0.12992	.	0.822637	0.09913	N	0.739573	T	0.19366	0.0465	L	0.50333	1.59	0.09310	N	1	B	0.25351	0.124	B	0.16289	0.015	T	0.28170	-1.0052	10	0.56958	D	0.05	.	3.6329	0.08138	0.1982:0.1498:0.0:0.652	.	48	Q7Z7L1	SLN11_HUMAN	L	48	ENSP00000312402:R48L;ENSP00000378067:R48L;ENSP00000397454:R48L;ENSP00000393615:R48L;ENSP00000395140:R48L	ENSP00000312402:R48L	R	-	2	0	SLFN11	30714797	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.644000	0.05415	0.085000	0.17107	-1.105000	0.02106	CGG		0.458	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		6	201	6	201	---	---	---	---
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(328-330)tCc>tGc		chromosome 17 open reading frame 78							114.0	112.0	113.0					17																	35736258		1928	4139	6067	SO:0001583	missense	284099					integral to membrane		g.chr17:35736258C>G	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.329C>G	17.37:g.35736258C>G	ENSP00000300618:p.Ser110Cys		Somatic				ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	p.S110C	NM_173625.3	NP_775896.3	WXS	Illumina GAIIx	Phase_I	Q8N4C9	CQ078_HUMAN			3	379	+		Breast(25;0.00295)|Ovarian(249;0.15)	110					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.329C>G	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310805	0.23821	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.48836	0.8	4.68	0.185	0.15096	.	0.873895	0.09754	N	0.760192	T	0.42017	0.1184	L	0.32530	0.975	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.53313	0.723;0.723	T	0.31166	-0.9953	10	0.66056	D	0.02	-0.2037	2.2749	0.04100	0.3448:0.3879:0.168:0.0993	.	110;110	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	C	110	ENSP00000300618:S110C	ENSP00000300618:S110C	S	+	2	0	C17orf78	32810371	0.000000	0.05858	0.102000	0.21198	0.808000	0.45660	0.322000	0.19576	0.549000	0.28973	0.655000	0.94253	TCC		0.458	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		6	136	6	136	---	---	---	---
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	ENST00000346213.4	-	3	413	c.201C>A	c.(199-201)gaC>gaA	p.D67E	RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000393860.3_Missense_Mutation_p.D67E	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(199-201)gaC>gaA		RAB5C, member RAS oncogene family							84.0	75.0	78.0					17																	40280784		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280784G>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.201C>A	17.37:g.40280784G>T	ENSP00000345689:p.Asp67Glu		Somatic				CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E	p.D67E	NM_201434.2	NP_958842.1	WXS	Illumina GAIIx	Phase_I	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	4	517	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	67					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.201C>A	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017374	0.35606	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-0.5;-1.39	5.17	3.16	0.36331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.41236	1.265	0.49915	D	0.999832	B;B	0.28801	0.005;0.223	B;B	0.24269	0.025;0.052	T	0.62854	-0.6766	10	0.33141	T	0.24	-31.9017	9.4373	0.38646	0.2117:0.0:0.7883:0.0	.	100;67	F8W1H5;P51148	.;RAB5C_HUMAN	E	67;67;100;67;67;67	ENSP00000345689:D67E;ENSP00000377440:D67E;ENSP00000447053:D100E;ENSP00000449612:D67E;ENSP00000449777:D67E;ENSP00000448314:D67E	ENSP00000345689:D67E	D	-	3	2	RAB5C	37534310	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.897000	0.48664	0.748000	0.32831	0.563000	0.77884	GAC		0.577	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		12	66	12	66	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	rs193920894		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000393331.3_Missense_Mutation_p.F102C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	79	15	79	---	---	---	---
UTP18	51096	broad.mit.edu	37	17	49371301	49371301	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:49371301C>A	ENST00000225298.7	+	12	1598	c.1541C>A	c.(1540-1542)cCa>cAa	p.P514Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	514					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TCAAACTTCCCAGTCATTAAA	0.368																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1540-1542)cCa>cAa		UTP18 small subunit (SSU) processome component homolog (yeast)							73.0	65.0	67.0					17																	49371301		1804	4063	5867	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49371301C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1541C>A	17.37:g.49371301C>A	ENSP00000225298:p.Pro514Gln		Somatic					p.P514Q	NM_016001.2	NP_057085.2	WXS	Illumina GAIIx	Phase_I	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		12	1598	+			514					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.1541C>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267665	0.59540	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.18502	2.21	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58405	-0.7642	10	0.87932	D	0	-12.3641	17.7891	0.88547	0.0:1.0:0.0:0.0	.	514	Q9Y5J1	UTP18_HUMAN	Q	514;490	ENSP00000225298:P514Q	ENSP00000225298:P514Q	P	+	2	0	UTP18	46726300	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	5.721000	0.68477	2.724000	0.93272	0.563000	0.77884	CCA		0.368	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		4	35	4	35	---	---	---	---
WIPI1	55062	broad.mit.edu	37	17	66432555	66432555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:66432555C>A	ENST00000262139.5	-	5	495	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACAATCTCCCCTGAAGTCAGG	0.502											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(496-498)Ggg>Tgg		WD repeat domain, phosphoinositide interacting 1							140.0	124.0	130.0					17																	66432555		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66432555C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.496G>T	17.37:g.66432555C>A	ENSP00000262139:p.Gly166Trp		Somatic	OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	p.G166W	NM_017983.5	NP_060453.3	WXS	Illumina GAIIx	Phase_I	Q5MNZ9	WIPI1_HUMAN			5	495	-			166					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.496G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873330	0.91664	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.63913	-0.07;1.67	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098791	0.64402	D	0.000001	D	0.84456	0.5476	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87434	0.2390	10	0.87932	D	0	-25.2794	19.6883	0.95987	0.0:1.0:0.0:0.0	.	166	Q5MNZ9	WIPI1_HUMAN	W	166;84	ENSP00000262139:G166W;ENSP00000437345:G84W	ENSP00000262139:G166W	G	-	1	0	WIPI1	63944150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.048000	0.76606	2.654000	0.90174	0.549000	0.68633	GGG		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		6	102	6	102	---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74308971	74308971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:74308971C>A	ENST00000446526.3	-	9	1424	c.979G>T	c.(979-981)Gag>Tag	p.E327*	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	298					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGACTCCTCAATCAGGCGA	0.478																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(979-981)Gag>Tag		phosphoribosyl pyrophosphate synthetase-associated protein 1							73.0	77.0	76.0					17																	74308971		2203	4300	6503	SO:0001587	stop_gained	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308971C>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.979G>T	17.37:g.74308971C>A	ENSP00000414624:p.Glu327*		Somatic				PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	p.E327*	NM_002766.2	NP_002757.2	WXS	Illumina GAIIx	Phase_I	Q14558	KPRA_HUMAN			9	1424	-			298					B2R6M4|Q96H06	Nonsense_Mutation	SNP	ENST00000446526.3	37	c.979G>T	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	37	6.048089	0.97236	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	.	.	.	5.83	5.83	0.93111	.	0.046650	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	.	.	.	X	327;224;224	.	ENSP00000314973:E224X	E	-	1	0	PRPSAP1	71820566	1.000000	0.71417	0.985000	0.45067	0.822000	0.46500	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	GAG		0.478	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		5	118	5	118	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80382311	80382311	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80382311C>A	ENST00000327949.9	+	2	137	c.126C>A	c.(124-126)ctC>ctA	p.L42L	HEXDC_ENST00000337014.6_Silent_p.L42L|HEXDC_ENST00000577944.1_Silent_p.L42L			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	42					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGGCCTCCTCATTGAGTATG	0.582																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(124-126)ctC>ctA		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							142.0	135.0	138.0					17																	80382311		1972	4149	6121	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80382311C>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.126C>A	17.37:g.80382311C>A			Somatic				HEXDC_ENST00000577944.1_Silent_p.L42L|HEXDC_ENST00000327949.9_Silent_p.L42L	p.L42L	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		3	600	+	Breast(20;0.00106)|all_neural(118;0.0804)		42					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.126C>A																																																																																					0.582	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	110	5	110	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80398917	80398917	+	Missense_Mutation	SNP	G	G	T	rs543564927		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80398917G>T	ENST00000327949.9	+	9	1038	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	HEXDC_ENST00000337014.6_Missense_Mutation_p.G343W|HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	343					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAACCTTCTCGGGATTTCCAG	0.592																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1027-1029)Ggg>Tgg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							133.0	150.0	145.0					17																	80398917		1889	4117	6006	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80398917G>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1027G>T	17.37:g.80398917G>T	ENSP00000332634:p.Gly343Trp		Somatic				HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W|HEXDC_ENST00000327949.9_Missense_Mutation_p.G343W	p.G343W	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		10	1501	+	Breast(20;0.00106)|all_neural(118;0.0804)		343					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1027G>T		.	.	.	.	.	.	.	.	.	.	G	8.667	0.901810	0.17760	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	T;T	0.37915	1.17;1.3	5.01	4.02	0.46733	.	0.147791	0.64402	D	0.000009	T	0.64571	0.2610	M	0.88031	2.925	0.18873	N	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61594	-0.7031	10	0.87932	D	0	-29.553	13.0337	0.58859	0.0:0.1619:0.8381:0.0	.	343;343	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	W	343	ENSP00000337854:G343W;ENSP00000332634:G343W	ENSP00000332634:G343W	G	+	1	0	HEXDC	77992206	0.995000	0.38212	0.004000	0.12327	0.002000	0.02628	2.956000	0.49129	1.205000	0.43262	0.563000	0.77884	GGG		0.592	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	268	5	268	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAGTGATACGGTGTTTGCTTT	0.493																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8959-8961)caC>caG		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						312.0	247.0	269.0					18																	6943285		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943285G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8961C>G	18.37:g.6943285G>C	ENSP00000374309:p.His2987Gln		Somatic					p.H2987Q	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	P25391	LAMA1_HUMAN			62	9054	-		Colorectal(10;0.172)	2987			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8961C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247077	0.39697	.	.	ENSG00000101680	ENST00000389658	T	0.40476	1.03	5.73	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.063724	0.64402	D	0.000016	T	0.54062	0.1835	L	0.54965	1.715	0.36009	D	0.837916	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.61850	-0.6978	10	0.72032	D	0.01	.	7.8622	0.29516	0.4589:0.0:0.5411:0.0	.	2987;317	P25391;B3KSD8	LAMA1_HUMAN;.	Q	2987	ENSP00000374309:H2987Q	ENSP00000374309:H2987Q	H	-	3	2	LAMA1	6933285	1.000000	0.71417	0.995000	0.50966	0.128000	0.20619	2.421000	0.44688	0.757000	0.33036	-0.214000	0.12660	CAC		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	137	5	137	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43311098	43311098	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:43311098C>A	ENST00000321925.4	+	4	502	c.270C>A	c.(268-270)ccC>ccA	p.P90P	SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000415427.3_Silent_p.P146P|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000586142.1_Silent_p.P90P|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	90					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAGAACCCCTGGTGGGCTC	0.547																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(268-270)ccC>ccA		solute carrier family 14 (urea transporter), member 1							91.0	83.0	85.0					18																	43311098		2203	4300	6503	SO:0001819	synonymous_variant	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43311098C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.270C>A	18.37:g.43311098C>A			Somatic				RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000415427.3_Silent_p.P146P|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.P90P	p.P90P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	WXS	Illumina GAIIx	Phase_I	Q13336	UT1_HUMAN			4	502	+			90					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Silent	SNP	ENST00000321925.4	37	c.270C>A	CCDS11925.1																																																																																				0.547	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		5	70	5	70	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55319857	55319857	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:55319857C>A	ENST00000283684.4	-	24	3119	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.G1040G|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1040			G -> R (in PFIC1; greatly reduces interaction with TMEM30A). {ECO:0000269|PubMed:15239083}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATGTTAGGACCCCATGCAACA	0.463																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3118-3120)ggG>ggT		ATPase, aminophospholipid transporter, class I, type 8B, member 1							141.0	127.0	132.0					18																	55319857		2203	4300	6503	SO:0001819	synonymous_variant	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55319857C>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3120G>T	18.37:g.55319857C>A			Somatic				RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G1040G	p.G1040G	NM_005603.4	NP_005594	WXS	Illumina GAIIx	Phase_I	O43520	AT8B1_HUMAN			25	3239	-		Colorectal(73;0.229)	1040		G -> R (in PFIC1).			Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.3120G>T	CCDS11965.1																																																																																				0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		6	99	6	99	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5144058	5144058	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:5144058C>A	ENST00000159111.4	+	19	2849	c.2631C>A	c.(2629-2631)tcC>tcA	p.S877S	KDM4B_ENST00000536461.1_Silent_p.S911S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	877					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCCACGTCCTTCCACGTGA	0.627																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2629-2631)tcC>tcA		lysine (K)-specific demethylase 4B							86.0	78.0	81.0					19																	5144058		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5144058C>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2631C>A	19.37:g.5144058C>A			Somatic				KDM4B_ENST00000536461.1_Silent_p.S911S	p.S877S	NM_015015.2	NP_055830	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			19	2849	+			877					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.2631C>A	CCDS12138.1																																																																																				0.627	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	101	5	101	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8551064	8551064	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:8551064G>T	ENST00000325495.4	+	14	1793	c.1752G>T	c.(1750-1752)atG>atT	p.M584I	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M545I	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	584	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAGCGCATGGGTGCCAACA	0.721																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1633-1635)atG>atT		heterogeneous nuclear ribonucleoprotein M							34.0	38.0	37.0					19																	8551064		2200	4297	6497	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551064G>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1752G>T	19.37:g.8551064G>T	ENSP00000325376:p.Met584Ile		Somatic				HNRNPM_ENST00000325495.4_Missense_Mutation_p.M584I	p.M545I	NM_031203.3	NP_112480.2	WXS	Illumina GAIIx	Phase_I	P52272	HNRPM_HUMAN			15	1867	+			584			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1635G>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491577	0.12702	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.13901	2.55;2.86	5.4	5.4	0.78164	.	0.118831	0.85682	D	0.000000	T	0.10551	0.0258	L	0.29908	0.895	0.42150	D	0.991554	B;B;B;B	0.10296	0.003;0.0;0.0;0.001	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.16394	-1.0404	10	0.23891	T	0.37	.	11.7969	0.52104	0.0:0.0:0.825:0.175	.	424;584;545;469	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	I	584;545;469;141	ENSP00000325376:M584I;ENSP00000325732:M545I	ENSP00000325376:M584I	M	+	3	0	HNRNPM	8457064	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.190000	0.50973	2.536000	0.85505	0.491000	0.48974	ATG		0.721	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	98	5	98	---	---	---	---
OR7G1	125962	broad.mit.edu	37	19	9225971	9225971	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:9225971G>T	ENST00000541538.1	-	1	468	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	OR7G1_ENST00000293614.1_Missense_Mutation_p.L157M	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTCTGAACCAGGGCATCCATA	0.483																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(469-471)Ctg>Atg		olfactory receptor, family 7, subfamily G, member 1							108.0	101.0	104.0					19																	9225971		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9225971G>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.469C>A	19.37:g.9225971G>T	ENSP00000444134:p.Leu157Met		Somatic				OR7G1_ENST00000541538.1_Missense_Mutation_p.L157M	p.L157M			WXS	Illumina GAIIx	Phase_I	Q8NGA0	OR7G1_HUMAN			1	468	-			157					Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.469C>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979404	0.34942	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00269	8.37;8.37	3.78	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.699644	0.11021	U	0.608420	T	0.00524	0.0017	M	0.82433	2.59	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.49322	-0.8952	10	0.66056	D	0.02	.	7.657	0.28381	0.2078:0.0:0.7922:0.0	.	157	Q8NGA0	OR7G1_HUMAN	M	157	ENSP00000293614:L157M;ENSP00000444134:L157M	ENSP00000293614:L157M	L	-	1	2	OR7G1	9086971	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.113000	0.10774	0.920000	0.36970	0.501000	0.49751	CTG		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			5	110	5	110	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10439413	10439413	+	Missense_Mutation	SNP	G	G	T	rs371524276		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:10439413G>T	ENST00000293677.6	-	3	793	c.712C>A	c.(712-714)Cgc>Agc	p.R238S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	221	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAGGCAGCGGGAGTGGAGA	0.672																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(712-714)Cgc>Agc		ribonucleoprotein, PTB-binding 1							18.0	22.0	21.0					19																	10439413		2176	4261	6437	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439413G>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.712C>A	19.37:g.10439413G>T	ENSP00000293677:p.Arg238Ser		Somatic					p.R238S	NM_133452.2	NP_597709.2	WXS	Illumina GAIIx	Phase_I	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	793	-			221			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.712C>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927105	0.52759	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06449	3.3	5.07	5.07	0.68467	.	0.214383	0.39146	N	0.001443	T	0.07369	0.0186	L	0.35341	1.055	0.37457	D	0.915056	B	0.23185	0.081	B	0.19666	0.026	T	0.17899	-1.0354	10	0.72032	D	0.01	-24.5425	15.9636	0.79950	0.0:0.0:1.0:0.0	.	238	E9PAU2	.	S	238;221	ENSP00000293677:R238S	ENSP00000293677:R238S	R	-	1	0	RAVER1	10300413	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.464000	0.60134	2.357000	0.79964	0.650000	0.86243	CGC		0.672	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		3	28	3	28	---	---	---	---
ZNF790	388536	broad.mit.edu	37	19	37314238	37314238	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:37314238C>A	ENST00000356725.4	-	4	298	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCTCTTTCCCTTTCTCCAAT	0.453																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(178-180)Ggg>Tgg		zinc finger protein 790							68.0	60.0	63.0					19																	37314238		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37314238C>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.178G>T	19.37:g.37314238C>A	ENSP00000349161:p.Gly60Trp		Somatic				CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.G60W	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	WXS	Illumina GAIIx	Phase_I	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	298	-	Esophageal squamous(110;0.183)		60			KRAB.			Missense_Mutation	SNP	ENST00000356725.4	37	c.178G>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.686883	0.48097	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.01034	5.42;5.42;5.42	3.58	2.55	0.30701	Krueppel-associated box (3);	.	.	.	.	T	0.06826	0.0174	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10917	-1.0609	9	0.62326	D	0.03	.	6.1569	0.20342	0.0:0.8619:0.0:0.1381	.	60	Q6PG37	ZN790_HUMAN	W	60	ENSP00000349161:G60W;ENSP00000435944:G60W;ENSP00000433389:G60W	ENSP00000349161:G60W	G	-	1	0	ZNF790	42006078	0.004000	0.15560	0.044000	0.18714	0.967000	0.64934	1.322000	0.33689	1.991000	0.58162	0.460000	0.39030	GGG		0.453	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		4	43	4	43	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42880167	42880167	+	Missense_Mutation	SNP	G	G	T	rs371459258		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:42880167G>T	ENST00000251268.6	+	42	7778	c.7778G>T	c.(7777-7779)cGg>cTg	p.R2593L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R2526L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2593					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGCGGCGTGCGGGACCGGCTG	0.692																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7576-7578)cGg>cTg		multiple EGF-like-domains 8							50.0	52.0	51.0					19																	42880167		2192	4282	6474	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880167G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7778G>T	19.37:g.42880167G>T	ENSP00000251268:p.Arg2593Leu		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.R2593L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	p.R2526L	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			41	8212	+		Prostate(69;0.00682)	2593					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7577G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.234065	0.79688	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.23348	1.91;1.92	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.46229	0.1382	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.85130	0.995;0.77;0.997	T	0.39187	-0.9626	10	0.66056	D	0.02	-18.3114	17.7125	0.88326	0.0:0.0:1.0:0.0	.	187;2593;2526	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	L	2526;2593;187	ENSP00000334219:R2526L;ENSP00000251268:R2593L	ENSP00000251268:R2593L	R	+	2	0	MEGF8	47572007	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	6.997000	0.76270	2.569000	0.86673	0.561000	0.74099	CGG		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	98	4	98	---	---	---	---
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(316-318)Act>Cct		zinc finger protein 576							114.0	94.0	101.0					19																	44103213		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103213A>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.316A>C	19.37:g.44103213A>C	ENSP00000337852:p.Thr106Pro		Somatic				ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	p.T106P	NM_001145347.1	NP_001138819.1	WXS	Illumina GAIIx	Phase_I	Q9H609	ZN576_HUMAN			3	470	+		Prostate(69;0.0199)	106					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.316A>C	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169878	0.06461	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	3.86	-2.19	0.07015	.	1.118350	0.06785	N	0.786062	T	0.01189	0.0039	N	0.13168	0.305	0.29673	N	0.842314	B	0.29909	0.261	B	0.26517	0.07	T	0.45264	-0.9273	10	0.62326	D	0.03	0.3315	9.532	0.39200	0.4178:0.0:0.5822:0.0	.	106	Q9H609	ZN576_HUMAN	P	106	ENSP00000375827:T106P;ENSP00000436182:T106P;ENSP00000435899:T106P;ENSP00000435934:T106P;ENSP00000435463:T106P;ENSP00000337852:T106P	ENSP00000337852:T106P	T	+	1	0	ZNF576	48795053	0.000000	0.05858	0.013000	0.15412	0.047000	0.14425	-0.266000	0.08631	-0.556000	0.06134	0.533000	0.62120	ACT		0.652	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		9	97	9	97	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44131831	44131831	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44131831G>T	ENST00000222374.2	-	2	224	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	59	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCCGGGCTGGGTTCTGGAT	0.587																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(175-177)cCa>cAa		cell adhesion molecule 4							179.0	160.0	166.0					19																	44131831		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131831G>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.176C>A	19.37:g.44131831G>T	ENSP00000222374:p.Pro59Gln		Somatic					p.P59Q	NM_145296.1	NP_660339.1	WXS	Illumina GAIIx	Phase_I	Q8NFZ8	CADM4_HUMAN			2	224	-		Prostate(69;0.0199)	59			Ig-like V-type.		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.176C>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179744	0.78564	.	.	ENSG00000105767	ENST00000222374	T	0.66280	-0.2	5.57	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.70595	2.14	0.48341	D	0.999633	D	0.67145	0.996	D	0.70016	0.967	T	0.79838	-0.1634	10	0.72032	D	0.01	.	14.2681	0.66135	0.0:0.1502:0.8498:0.0	.	59	Q8NFZ8	CADM4_HUMAN	Q	59	ENSP00000222374:P59Q	ENSP00000222374:P59Q	P	-	2	0	CADM4	48823671	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.189000	0.89712	1.339000	0.45563	0.591000	0.81541	CCA		0.587	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		5	140	5	140	---	---	---	---
TBC1D20	128637	broad.mit.edu	37	20	419417	419417	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:419417C>A	ENST00000354200.4	-	8	1172	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	342					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAACCGCTGCCGCAGCACCAT	0.557																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1024-1026)cGg>cTg		TBC1 domain family, member 20							75.0	79.0	78.0					20																	419417		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419417C>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1025G>T	20.37:g.419417C>A	ENSP00000346139:p.Arg342Leu		Somatic				TBC1D20_ENST00000461188.1_5'UTR	p.R342L	NM_144628.2	NP_653229.1	WXS	Illumina GAIIx	Phase_I	Q96BZ9	TBC20_HUMAN			8	1172	-		all_epithelial(17;0.228)|Breast(17;0.231)	342					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1025G>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565748	0.86439	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.33654	1.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.65498	2.005	0.80722	D	1	P	0.35575	0.51	B	0.33121	0.158	T	0.29366	-1.0014	10	0.49607	T	0.09	-29.89	19.6321	0.95713	0.0:1.0:0.0:0.0	.	342	Q96BZ9	TBC20_HUMAN	L	342;367	ENSP00000346139:R342L	ENSP00000246077:R367L	R	-	2	0	TBC1D20	367417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	2.884000	0.98904	0.655000	0.94253	CGG		0.557	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		4	129	4	129	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1433744	1433744	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:1433744C>A	ENST00000216879.4	-	6	1446	c.579G>T	c.(577-579)ctG>ctT	p.L193L	NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000381658.4_Silent_p.L82L|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	193	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCCATTATCCAGGCTGAATC	0.468																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(577-579)ctG>ctT		NSFL1 (p97) cofactor (p47)							172.0	161.0	165.0					20																	1433744		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433744C>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.579G>T	20.37:g.1433744C>A			Somatic				NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000381658.4_Silent_p.L82L	p.L193L	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			6	1446	-			193			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.579G>T	CCDS13015.1																																																																																				0.468	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		6	204	6	204	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13856749	13856749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:13856749C>A	ENST00000284951.5	-	12	1113	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCAGCATTCCCCTCTAAATAC	0.368																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1039-1041)Ggg>Tgg		sel-1 suppressor of lin-12-like 2 (C. elegans)							145.0	136.0	139.0					20																	13856749		1871	4099	5970	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13856749C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1039G>T	20.37:g.13856749C>A	ENSP00000284951:p.Gly347Trp		Somatic				SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W	p.G347W			WXS	Illumina GAIIx	Phase_I	Q5TEA6	SE1L2_HUMAN			12	1113	-			347					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1039G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.564141	0.86335	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.61510	0.1;0.1	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	D	0.86003	0.5829	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90932	0.4791	10	0.87932	D	0	-6.7647	17.6801	0.88240	0.0:1.0:0.0:0.0	.	347;347	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	W	347	ENSP00000367312:G347W;ENSP00000284951:G347W	ENSP00000284951:G347W	G	-	1	0	SEL1L2	13804749	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.476000	0.73587	2.781000	0.95711	0.650000	0.86243	GGG		0.368	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		6	140	6	140	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20180496	20180496	+	Missense_Mutation	SNP	C	C	A	rs116508993	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:20180496C>A	ENST00000245957.5	+	17	1958	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		628										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTCTATCCTCTGGAAAAGCT	0.602																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1882-1884)Ctg>Atg		chromosome 20 open reading frame 26							142.0	127.0	132.0					20																	20180496		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180496C>A																												ENST00000245957.5:c.1882C>A	20.37:g.20180496C>A	ENSP00000245957:p.Leu628Met		Somatic				C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.L628M	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1958	+			628					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1882C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977423	0.53720	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.27557	1.66	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000009	T	0.52468	0.1736	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.45977	-0.9224	10	0.38643	T	0.18	.	13.8075	0.63243	0.0:0.9268:0.0:0.0732	.	608;628	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	568;196;608;628	ENSP00000245957:L628M	ENSP00000245957:L628M	L	+	1	2	C20orf26	20128496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.463000	0.60128	2.620000	0.88729	0.563000	0.77884	CTG		0.602	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			7	151	7	151	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34078501	34078501	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34078501G>T	ENST00000397527.1	+	21	3345	c.2625G>T	c.(2623-2625)aaG>aaT	p.K875N	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	875	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTGGCAAAGGCTCTGGAGA	0.547																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2623-2625)aaG>aaT		centrosomal protein 250kDa							63.0	68.0	66.0					20																	34078501		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34078501G>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2625G>T	20.37:g.34078501G>T	ENSP00000380661:p.Lys875Asn		Somatic				CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	p.K875N	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		21	3345	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		875			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2625G>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116600	0.56505	.	.	ENSG00000126001	ENST00000397527	T	0.10668	2.85	4.47	4.47	0.54385	.	0.258863	0.27981	N	0.017075	T	0.23766	0.0575	M	0.77820	2.39	0.80722	D	1	D	0.58620	0.983	P	0.54590	0.756	T	0.02365	-1.1170	10	0.19590	T	0.45	.	12.8225	0.57700	0.0:0.0:1.0:0.0	.	875	Q9BV73	CP250_HUMAN	N	875	ENSP00000380661:K875N	ENSP00000380661:K875N	K	+	3	2	CEP250	33541915	0.972000	0.33761	0.697000	0.30258	0.538000	0.34931	2.915000	0.48805	2.503000	0.84419	0.555000	0.69702	AAG		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	101	5	101	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34092575	34092575	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34092575C>A	ENST00000397527.1	+	30	7098	c.6378C>A	c.(6376-6378)ccC>ccA	p.P2126P	CEP250_ENST00000342580.4_Silent_p.P2070P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2126	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCCTTACCCCACAGCCACA	0.537																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6376-6378)ccC>ccA		centrosomal protein 250kDa							75.0	82.0	80.0					20																	34092575		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092575C>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6378C>A	20.37:g.34092575C>A			Somatic				CEP250_ENST00000342580.4_Silent_p.P2070P	p.P2126P	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	7098	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2126			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.6378C>A	CCDS13255.1																																																																																				0.537	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		6	127	6	127	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60966501	60966501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:60966501C>A	ENST00000279101.5	-	9	1108	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	367					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCATCTCCCGCTTTAAGCT	0.642																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1099-1101)cGg>cTg		Cdk5 and Abl enzyme substrate 2																																				SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966501C>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1100G>T	20.37:g.60966501C>A	ENSP00000279101:p.Arg367Leu		Somatic					p.R367L	NM_031215.2	NP_112492.2	WXS	Illumina GAIIx	Phase_I	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1108	-	Breast(26;2.05e-08)		367					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1100G>T	CCDS33503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449361|4.449361	0.84101|0.84101	.|.	.|.	ENSG00000149679|ENSG00000149679	ENST00000453274|ENST00000370560;ENST00000279101	.|T	.|0.17528	.|2.27	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Cyclin-like (3);	.|0.050917	.|0.85682	.|D	.|0.000000	T|T	0.45094|0.45094	0.1325|0.1325	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.39165|0.39165	-0.9627|-0.9627	5|10	.|0.62326	.|D	.|0.03	-28.3781|-28.3781	19.1709|19.1709	0.93576|0.93576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|367	.|Q9BTV7	.|CABL2_HUMAN	W|L	161|155;367	.|ENSP00000279101:R367L	.|ENSP00000279101:R367L	G|R	-|-	1|2	0|0	CABLES2|CABLES2	60399896|60399896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	5.890000|5.890000	0.69774|0.69774	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.642	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		5	134	5	134	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(232-234)acG>acA		neuropeptides B/W receptor 2		C		1,4401	2.1+/-5.4	0,1,2200	68.0	56.0	60.0		234	-7.5	0.0	20	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		78/334	62737951	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737951C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.234G>A	20.37:g.62737951C>T			Somatic					p.T78T	NM_005286.2	NP_005277.2	WXS	Illumina GAIIx	Phase_I	P48146	NPBW2_HUMAN			1	573	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		78					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.234G>A	CCDS13557.1																																																																																				0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	17	4	17	---	---	---	---
USP18	11274	broad.mit.edu	37	22	18640582	18640582	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:18640582C>A	ENST00000215794.7	+	2	582	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	51					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGGGACTACCCTCATGGTCAT	0.552																																						ENST00000215794.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						c.(151-153)cCt>cAt		ubiquitin specific peptidase 18							90.0	89.0	89.0					22																	18640582		2203	4300	6503	SO:0001583	missense	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18640582C>A	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.152C>A	22.37:g.18640582C>A	ENSP00000215794:p.Pro51His		Somatic					p.P51H	NM_017414.3	NP_059110.2	WXS	Illumina GAIIx	Phase_I	Q9UMW8	UBP18_HUMAN			2	582	+			51					Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	c.152C>A	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311733	0.40895	.	.	ENSG00000184979	ENST00000215794	T	0.05649	3.41	4.76	-0.171	0.13331	.	1.055300	0.07422	N	0.894138	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43669	-0.9377	10	0.72032	D	0.01	.	7.3035	0.26434	0.4884:0.3526:0.1589:0.0	.	51	Q9UMW8	UBP18_HUMAN	H	51	ENSP00000215794:P51H	ENSP00000215794:P51H	P	+	2	0	USP18	17020582	0.000000	0.05858	0.055000	0.19348	0.761000	0.43186	-0.453000	0.06778	0.277000	0.22141	0.591000	0.81541	CCT		0.552	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			6	113	6	113	---	---	---	---
THAP7	80764	broad.mit.edu	37	22	21355055	21355055	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:21355055C>A	ENST00000215742.4	-	3	432	c.258G>T	c.(256-258)gaG>gaT	p.E86D	THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.E86D|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	86					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGACTGCCCCCTCCTTTAGCC	0.602																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(256-258)gaG>gaT		THAP domain containing 7							119.0	114.0	116.0					22																	21355055		2203	4300	6503	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21355055C>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.258G>T	22.37:g.21355055C>A	ENSP00000215742:p.Glu86Asp		Somatic				THAP7_ENST00000399133.2_Missense_Mutation_p.E86D	p.E86D	NM_030573.2	NP_085050.2	WXS	Illumina GAIIx	Phase_I	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	432	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	86					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.258G>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483230	0.44147	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96300	-3.97;-3.97	4.24	-4.93	0.03066	Zinc finger, C2CH-type (4);	0.320997	0.23904	N	0.043402	D	0.83830	0.5339	N	0.04746	-0.17	0.31300	N	0.688431	P	0.35944	0.529	B	0.31869	0.137	D	0.83595	0.0125	10	0.02654	T	1	-16.0419	10.342	0.43884	0.0:0.3505:0.0:0.6495	.	86	Q9BT49	THAP7_HUMAN	D	86	ENSP00000215742:E86D;ENSP00000382084:E86D	ENSP00000215742:E86D	E	-	3	2	THAP7	19685055	0.617000	0.27043	0.934000	0.37439	0.956000	0.61745	-0.612000	0.05616	-0.681000	0.05204	-0.291000	0.09656	GAG		0.602	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		6	125	6	125	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31741056	31741056	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:31741056G>T	ENST00000266269.5	-	1	1162	c.533C>A	c.(532-534)cCt>cAt	p.P178H	PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	178					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGAGGTCCCAGGGGGGCGAAA	0.592																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(532-534)cCt>cAt		POZ (BTB) and AT hook containing zinc finger 1							70.0	78.0	75.0					22																	31741056		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741056G>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.533C>A	22.37:g.31741056G>T	ENSP00000266269:p.Pro178His		Somatic				PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	p.P178H	NM_014323.2	NP_055138.2	WXS	Illumina GAIIx	Phase_I	Q9HBE1	PATZ1_HUMAN			1	1162	-			178					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.533C>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176936	0.57692	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.13196	2.8;2.61;2.8;2.83	3.98	3.98	0.46160	.	0.361214	0.29508	N	0.011951	T	0.12732	0.0309	N	0.14661	0.345	0.34106	D	0.662422	D;P;P;P	0.53462	0.96;0.921;0.947;0.804	P;P;P;P	0.50162	0.633;0.481;0.527;0.563	T	0.17776	-1.0358	10	0.66056	D	0.02	-7.6304	11.9163	0.52767	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	H	178	ENSP00000266269:P178H;ENSP00000384173:P178H;ENSP00000337520:P178H;ENSP00000215919:P178H	ENSP00000215919:P178H	P	-	2	0	PATZ1	30071056	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.145000	0.58065	1.936000	0.56123	0.462000	0.41574	CCT		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	122	5	122	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69550106	69550106	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:69550106G>T	ENST00000374403.3	+	9	1077	c.995G>T	c.(994-996)aGa>aTa	p.R332I	KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	332	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATGCTGACAGAGCAAGAAAA	0.388																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(994-996)aGa>aTa		kinesin family member 4A							131.0	124.0	126.0					X																	69550106		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69550106G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.995G>T	X.37:g.69550106G>T	ENSP00000363524:p.Arg332Ile		Somatic				KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	p.R332I	NM_012310.4	NP_036442.3	WXS	Illumina GAIIx	Phase_I	O95239	KIF4A_HUMAN			9	1077	+			332			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.995G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656819	0.88154	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.78246	-1.16;-1.16	5.16	5.16	0.70880	Kinesin, motor domain (3);	0.177175	0.40064	N	0.001196	D	0.92414	0.7592	H	0.97806	4.08	0.80722	D	1	P;D	0.71674	0.917;0.998	D;D	0.69479	0.922;0.964	D	0.95295	0.8398	10	0.87932	D	0	.	16.9009	0.86113	0.0:0.0:1.0:0.0	.	332;332	O95239;O95239-2	KIF4A_HUMAN;.	I	332	ENSP00000363509:R332I;ENSP00000363524:R332I	ENSP00000363509:R332I	R	+	2	0	KIF4A	69466831	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.379000	0.97198	2.285000	0.76669	0.436000	0.28706	AGA		0.388	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		5	109	5	109	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134001	91134001	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:91134001G>T	ENST00000373094.1	+	2	3607	c.2762G>T	c.(2761-2763)tGg>tTg	p.W921L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	921					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W921L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTACAATTGGGTAACTACA	0.448																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			3	Substitution - Missense(3)	p.W921L(3)	lung(3)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2761-2763)tGg>tTg		protocadherin 11 X-linked							168.0	146.0	153.0					X																	91134001		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134001G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2762G>T	X.37:g.91134001G>T	ENSP00000362186:p.Trp921Leu		Somatic				PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L	p.W921L	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	3607	+			921					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2762G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482834	0.26598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.79;0.8;0.74;0.81;0.78;0.78;0.8;0.81	5.16	5.16	0.70880	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.71581	2.175	0.52099	D	0.999948	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69533	-0.5120	10	0.46703	T	0.11	.	16.6258	0.84970	0.0:0.0:1.0:0.0	.	921;921;921;921;921;921;921;921	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	921	ENSP00000378746:W921L;ENSP00000362186:W921L;ENSP00000362189:W921L;ENSP00000355040:W921L;ENSP00000362180:W921L;ENSP00000423762:W921L;ENSP00000355105:W921L;ENSP00000384758:W921L;ENSP00000298274:W921L	ENSP00000298274:W921L	W	+	2	0	PCDH11X	91020657	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	9.114000	0.94329	2.127000	0.65507	0.600000	0.82982	TGG		0.448	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		6	128	6	128	---	---	---	---
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(406-408)cttfs		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001589	frameshift_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692751_53692752delAG	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.406_407delCT	1.37:g.53692751_53692752delAG	ENSP00000360525:p.Leu136fs		Somatic				MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	p.L136fs	NM_002370.3	NP_002361.1	WXS	Illumina GAIIx	Phase_I	P61326	MGN_HUMAN			5	567_568	-			136					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Frame_Shift_Del	DEL	ENST00000371470.3	37	c.406_407delCT	CCDS577.1																																																																																				0.376	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		8	34	8	34	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(361-363)aagfs		mitochondrial ribosomal protein S25																																				SO:0001589	frameshift_variant	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094107_15094108insT	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.363dupA	3.37:g.15094112_15094112dupT	ENSP00000253686:p.Lys121fs		Somatic				MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000449354.2_Intron	p.K121fs	NM_022497.3	NP_071942.1	WXS	Illumina GAIIx	Phase_I	P82663	RT25_HUMAN			4	502_503	-			121					B4DFJ5|B4DQG6|Q9H7P5	Frame_Shift_Ins	INS	ENST00000253686.2	37	c.362_363insA	CCDS2622.1																																																																																				0.579	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		16	261	16	261	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gaafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5. {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)			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						CTGGCACTGGTTCAAAAAAGA	0.313																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(1576-1578)gaafs		cadherin 9, type 2 (T1-cadherin)							75.0	86.0	82.0					5																	26886127		2202	4300	6502	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886127delT	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.1578delA	5.37:g.26886127delT	ENSP00000231021:p.Glu526fs		Somatic					p.E526fs	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			10	1750	-			526			Cadherin 5.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1578delA	CCDS3893.1																																																																																				0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	171	33	171	---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	ENST00000472493.2	-	3	376_377	c.298_299insTT	c.(298-300)tatfs	p.Y100fs	DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000491677.2_Frame_Shift_Ins_p.Y229fs|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000372702.3_3'UTR	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	100					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(685-687)tatfs		dual specificity phosphatase 13																																				SO:0001589	frameshift_variant	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855428_76855429insAA	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.298_299insTT	10.37:g.76855428_76855429insAA	ENSP00000444580:p.Tyr100fs		Somatic				DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.Y100fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	p.Y229fs	NM_001007271.1	NP_001007272.1	WXS	Illumina GAIIx	Phase_I	Q6B8I1	MDSP_HUMAN			7	1227_1228	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		91					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Frame_Shift_Ins	INS	ENST00000472493.2	37	c.685_686insTT	CCDS7346.1																																																																																				0.559	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			35	178	35	178	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2494-2496)aaafs		centrosomal protein 112kDa							82.0	83.0	83.0					17																	63739297		2203	4300	6503	SO:0001589	frameshift_variant	201134					centrosome		g.chr17:63739297delT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2496delA	17.37:g.63739297delT	ENSP00000376522:p.Lys832fs		Somatic				CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000541355.1_Intron	p.K832fs	NM_145036.3	NP_659473.2	WXS	Illumina GAIIx	Phase_I	Q8N8E3	CE112_HUMAN			23	2714	-			832					Q6PIB5|Q8NCR4|Q8NFR4	Frame_Shift_Del	DEL	ENST00000392769.2	37	c.2496delA	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		40	152	40	152	---	---	---	---
