#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	7724942	7724942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:7724942G>A	ENST00000303635.7	+	9	2542	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D779N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D779N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGATCAACGACTTCATCTC	0.647			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		cervix(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2335-2337)GAC>AAC		calmodulin-binding transcription activator 1							164.0	186.0	178.0					1																	7724942		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724942G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2335G>A	1.37:g.7724942G>A	ENSP00000306522:p.Asp779Asn						p.D779N	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2542	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	779					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2335G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248917	0.80024	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.45276	0.91;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.56595	-0.7953	10	0.34782	T	0.22	-24.3293	18.7931	0.91982	0.0:0.0:1.0:0.0	.	779	Q9Y6Y1	CMTA1_HUMAN	N	779	ENSP00000306522:D779N;ENSP00000402561:D779N	ENSP00000306522:D779N	D	+	1	0	CAMTA1	7647529	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.733000	0.98818	2.453000	0.82957	0.549000	0.68633	GAC		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		27	313	0	0	0	0	27	313				
MASP2	10747	broad.mit.edu	37	1	11090260	11090260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:11090260C>A	ENST00000400897.3	-	10	1285	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	424	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTGATTTTTCTCCTTTGGAG	0.423																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1270-1272)GAA>TAA		mannan-binding lectin serine protease 2 isoform							130.0	124.0	126.0					1																	11090260		2203	4300	6503	SO:0001587	stop_gained	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090260C>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1270G>T	1.37:g.11090260C>A	ENSP00000383690:p.Glu424*						p.E424*	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1291	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	424			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Nonsense_Mutation	SNP	ENST00000400897.3	37	c.1270G>T	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552365	0.86127	.	.	ENSG00000009724	ENST00000400897	.	.	.	5.63	5.63	0.86233	.	0.209202	0.39759	N	0.001277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.8997	0.41340	0.0:0.8479:0.0:0.1521	.	.	.	.	X	424	.	ENSP00000383690:E424X	E	-	1	0	MASP2	11012847	1.000000	0.71417	0.996000	0.52242	0.735000	0.41995	3.189000	0.50965	2.660000	0.90430	0.655000	0.94253	GAA		0.423	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		15	46	1	0	1.57e-10	1.77e-10	15	46				
ARHGEF10L	55160	broad.mit.edu	37	1	17953907	17953907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:17953907A>G	ENST00000361221.3	+	15	1652	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E459G|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E206G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E276G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E498G|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E256G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E459G	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	498	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGCTGGCTGAGAAGCTGAAC	0.627																																						uc001ban.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1492-1494)GAG>GGG		Rho guanine nucleotide exchange factor (GEF)							43.0	45.0	44.0					1																	17953907		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17953907A>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1493A>G	1.37:g.17953907A>G	ENSP00000355060:p.Glu498Gly					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E459G|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E459G|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E459G|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E256G|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E264G|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E276G|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E206G|ARHGEF10L_uc009vpf.2_RNA	p.E498G	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	15	1652	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	498			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1493A>G	CCDS182.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486603	0.84854	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;1.55	5.05	5.05	0.67936	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.90814	3.15	0.42755	D	0.993783	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	0.998;0.997;0.996;0.999;0.998;0.996;0.999;1.0	D	0.86106	0.1559	10	0.72032	D	0.01	-35.445	13.7413	0.62849	1.0:0.0:0.0:0.0	.	276;256;498;206;264;459;459;498	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	G	498;459;498;459;256;276;276;206	ENSP00000355060:E498G;ENSP00000399401:E459G;ENSP00000394621:E498G;ENSP00000364564:E459G;ENSP00000364569:E256G;ENSP00000364557:E276G;ENSP00000167825:E206G	ENSP00000167825:E206G	E	+	2	0	ARHGEF10L	17826494	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	8.705000	0.91357	2.121000	0.65114	0.379000	0.24179	GAG		0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		11	42	0	0	0	0	11	42				
ERICH3	127254	broad.mit.edu	37	1	75039018	75039018	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:75039018T>C	ENST00000326665.5	-	14	2594	c.2376A>G	c.(2374-2376)aaA>aaG	p.K792K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		792	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCCTCCCCTTTTCCCTGTA	0.522																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2374-2376)AAA>AAG		hypothetical protein LOC127254							104.0	104.0	104.0					1																	75039018		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75039018T>C																												ENST00000326665.5:c.2376A>G	1.37:g.75039018T>C							p.K792K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2595	-			792			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2376A>G	CCDS30755.1																																																																																				0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			3	149	0	0	0	0	3	149				
USP33	23032	broad.mit.edu	37	1	78183606	78183606	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78183606G>C	ENST00000370793.1	-	18	2303	c.1957C>G	c.(1957-1959)Caa>Gaa	p.Q653E	USP33_ENST00000357428.1_Missense_Mutation_p.Q653E|USP33_ENST00000370792.3_Missense_Mutation_p.Q645E|USP33_ENST00000370794.3_Missense_Mutation_p.Q622E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	653	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTCACAATTTGAGCTGGACTA	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(1957-1959)CAA>GAA		ubiquitin specific protease 33 isoform 1							127.0	130.0	129.0					1																	78183606		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78183606G>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1957C>G	1.37:g.78183606G>C	ENSP00000359829:p.Gln653Glu					USP33_uc001dhs.2_Missense_Mutation_p.Q374E|USP33_uc001dhu.2_Missense_Mutation_p.Q622E|USP33_uc001dhv.2_Missense_Mutation_p.Q458E|USP33_uc001dhw.2_Missense_Mutation_p.Q645E	p.Q653E	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			18	2304	-			653					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1957C>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279516	0.23307	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.7	4.7	0.59300	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.060756	0.64402	D	0.000003	T	0.13670	0.0331	N	0.25789	0.76	0.53688	D	0.999976	B;B;B	0.28128	0.167;0.167;0.201	B;B;B	0.32149	0.087;0.087;0.141	T	0.06338	-1.0832	10	0.21014	T	0.42	.	18.0321	0.89288	0.0:0.0:1.0:0.0	.	645;622;653	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	E	622;653;653;645	ENSP00000359830:Q622E;ENSP00000359829:Q653E;ENSP00000350009:Q653E;ENSP00000359828:Q645E	ENSP00000350009:Q653E	Q	-	1	0	USP33	77956194	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.416000	0.97383	2.347000	0.79759	0.563000	0.77884	CAA		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		5	80	0	0	0	0	5	80				
NEXN	91624	broad.mit.edu	37	1	78383306	78383306	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78383306A>T	ENST00000334785.7	+	3	267	c.83A>T	c.(82-84)aAg>aTg	p.K28M	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000457030.1_Missense_Mutation_p.K28M|NEXN_ENST00000294624.8_Missense_Mutation_p.K28M	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAACTTGGCAAGGGTGATGTA	0.338																																						uc001dic.3		NA																	0				ovary(2)	2						c.(82-84)AAG>ATG		nexilin (F actin binding protein)							73.0	68.0	69.0					1																	78383306		1821	4089	5910	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383306A>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.83A>T	1.37:g.78383306A>T	ENSP00000333938:p.Lys28Met					NEXN_uc001dia.3_Missense_Mutation_p.K28M|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	p.K28M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	380	+			28						Missense_Mutation	SNP	ENST00000334785.7	37	c.83A>T	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589932	0.66105	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.70516	-0.2;-0.45;-0.21;-0.49	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000053	T	0.74489	0.3723	L	0.58101	1.795	0.37228	D	0.905557	D	0.67145	0.996	P	0.59703	0.862	T	0.79361	-0.1835	10	0.87932	D	0	-21.1133	15.9178	0.79535	1.0:0.0:0.0:0.0	.	28	Q0ZGT2	NEXN_HUMAN	M	28	ENSP00000388048:K28M;ENSP00000294624:K28M;ENSP00000333938:K28M;ENSP00000411902:K28M	ENSP00000294624:K28M	K	+	2	0	NEXN	78155894	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.911000	0.75746	2.216000	0.71823	0.533000	0.62120	AAG		0.338	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		6	61	0	0	0	0	6	61				
HS2ST1	9653	broad.mit.edu	37	1	87558299	87558299	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:87558299T>C	ENST00000370550.5	+	4	898	c.535T>C	c.(535-537)Ttt>Ctt	p.F179L	HS2ST1_ENST00000370551.4_Missense_Mutation_p.F179L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F153L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F153L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	179					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTTTCTGAGATTTGGAGATGA	0.299																																						uc010osk.1		NA																	0				central_nervous_system(1)	1						c.(535-537)TTT>CTT		heparan sulfate 2-O-sulfotransferase 1 isoform							82.0	89.0	87.0					1																	87558299		2203	4293	6496	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87558299T>C	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.535T>C	1.37:g.87558299T>C	ENSP00000359581:p.Phe179Leu					HS2ST1_uc001dmc.3_Missense_Mutation_p.F179L|LOC339524_uc001dme.1_Missense_Mutation_p.F140L	p.F179L	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	4	920	+		Lung NSC(277;0.153)	179			Lumenal (Potential).		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.535T>C	CCDS711.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221025	0.79464	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.72894	2.215	0.80722	D	1	B;B	0.23442	0.009;0.085	B;B	0.16722	0.006;0.016	T	0.62315	-0.6880	10	0.44086	T	0.13	-36.6386	15.9212	0.79575	0.0:0.0:0.0:1.0	.	179;153	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	L	179;179;153;153	ENSP00000359582:F179L;ENSP00000359581:F179L;ENSP00000359579:F153L;ENSP00000349268:F153L	ENSP00000349268:F153L	F	+	1	0	HS2ST1	87330887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	2.224000	0.72417	0.528000	0.53228	TTT		0.299	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		7	69	0	0	0	0	7	69				
PKN2	5586	broad.mit.edu	37	1	89271671	89271671	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:89271671G>C	ENST00000370521.3	+	12	2133	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	PKN2_ENST00000544045.1_Missense_Mutation_p.E266Q|PKN2_ENST00000316005.7_3'UTR|PKN2_ENST00000370513.5_Missense_Mutation_p.E544Q|PKN2_ENST00000370505.3_Missense_Mutation_p.E435Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	592					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGAATCTTCTGAATTAAGAGT	0.388																																						uc001dmn.2		NA																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(1774-1776)GAA>CAA		protein kinase N2							66.0	61.0	63.0					1																	89271671		1825	4075	5900	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89271671G>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1774G>C	1.37:g.89271671G>C	ENSP00000359552:p.Glu592Gln					PKN2_uc001dmm.1_3'UTR|PKN2_uc010osp.1_Missense_Mutation_p.E576Q|PKN2_uc010osq.1_Missense_Mutation_p.E435Q|PKN2_uc009wcv.2_Missense_Mutation_p.E544Q|PKN2_uc010osr.1_Missense_Mutation_p.E257Q	p.E592Q	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	12	2116	+		Lung NSC(277;0.123)	592					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1774G>C	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093889	0.20471	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.37	4.46	0.54185	.	0.153741	0.29172	U	0.012940	T	0.15782	0.0380	L	0.50333	1.59	0.38844	D	0.956125	B;B;B	0.13594	0.004;0.001;0.008	B;B;B	0.10450	0.005;0.003;0.005	T	0.07309	-1.0779	10	0.12766	T	0.61	.	13.9847	0.64326	0.0729:0.0:0.9271:0.0	.	576;544;592	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	Q	592;435;544;266	ENSP00000359552:E592Q;ENSP00000359536:E435Q;ENSP00000359544:E544Q;ENSP00000439643:E266Q	ENSP00000359536:E435Q	E	+	1	0	PKN2	89044259	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.282000	0.51693	1.271000	0.44313	0.591000	0.81541	GAA		0.388	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		8	50	0	0	0	0	8	50				
DPYD	1806	broad.mit.edu	37	1	97981411	97981411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:97981411C>A	ENST00000370192.3	-	13	1711	c.1611G>T	c.(1609-1611)atG>atT	p.M537I		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	537					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCAATCCGGCCATTTCTACAC	0.438																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1609-1611)ATG>ATT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						82.0	76.0	78.0					1																	97981411		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97981411C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1611G>T	1.37:g.97981411C>A	ENSP00000359211:p.Met537Ile						p.M537I	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	13	1748	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	537					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1611G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177443	0.21787	.	.	ENSG00000188641	ENST00000370192	D	0.82526	-1.62	5.2	5.2	0.72013	Aldolase-type TIM barrel (1);	0.083276	0.85682	D	0.000000	T	0.48370	0.1496	N	0.00765	-1.205	0.80722	D	1	B	0.14438	0.01	B	0.28991	0.097	T	0.53479	-0.8433	10	0.17832	T	0.49	-17.5816	19.0969	0.93255	0.0:1.0:0.0:0.0	.	537	Q12882	DPYD_HUMAN	I	537	ENSP00000359211:M537I	ENSP00000359211:M537I	M	-	3	0	DPYD	97753999	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	3.580000	0.53907	2.584000	0.87258	0.585000	0.79938	ATG		0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	51	1	0	1.02e-07	1.14e-07	5	51				
TRIM33	51592	broad.mit.edu	37	1	114948369	114948369	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:114948369C>G	ENST00000358465.2	-	15	2514	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM33_ENST00000369543.2_Missense_Mutation_p.E811Q|TRIM33_ENST00000450349.2_Missense_Mutation_p.E443Q|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	811			E -> K (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E811K(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCTACTCTCAGGACTGCTC	0.373			T	RET	papillary thyroid																																	uc001eew.2		NA		Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		2	Substitution - Missense(2)	p.E811K(2)	lung(2)	lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(2431-2433)GAG>CAG		tripartite motif-containing 33 protein isoform							80.0	81.0	81.0					1																	114948369		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948369C>G	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2431G>C	1.37:g.114948369C>G	ENSP00000351250:p.Glu811Gln					TRIM33_uc010owr.1_Missense_Mutation_p.E425Q|TRIM33_uc010ows.1_Missense_Mutation_p.E443Q|TRIM33_uc001eex.2_Missense_Mutation_p.E811Q|TRIM33_uc001eey.1_Missense_Mutation_p.E6Q	p.E811Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2515	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	811		E -> K (in a lung adenocarcinoma sample; somatic mutation).			O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2431G>C	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107151	0.56291	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75589	-0.81;-0.75;-0.95	5.29	5.29	0.74685	.	0.045508	0.85682	D	0.000000	T	0.71187	0.3310	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.67145	0.993;0.985;0.996;0.996;0.993	P;P;D;D;D	0.78314	0.787;0.643;0.986;0.991;0.979	T	0.66380	-0.5938	10	0.16420	T	0.52	-7.9595	19.2949	0.94118	0.0:1.0:0.0:0.0	.	443;443;6;811;811	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	Q	811;811;443	ENSP00000351250:E811Q;ENSP00000358556:E811Q;ENSP00000412077:E443Q	ENSP00000351250:E811Q	E	-	1	0	TRIM33	114749892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.749000	0.74883	2.636000	0.89361	0.491000	0.48974	GAG		0.373	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		3	92	0	0	0	0	3	92				
WDR3	10885	broad.mit.edu	37	1	118495242	118495242	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:118495242A>G	ENST00000349139.5	+	19	2155	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	703						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGACTTTGGGAGAGAACAAGG	0.463																																						uc010oxe.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(2107-2109)GAG>GGG		WD repeat-containing protein 3							107.0	107.0	107.0					1																	118495242		2203	4299	6502	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118495242A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2108A>G	1.37:g.118495242A>G	ENSP00000308179:p.Glu703Gly					WDR3_uc001ehi.2_Intron	p.E703G	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	19	2174	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	703			WD 13.			Missense_Mutation	SNP	ENST00000349139.5	37	c.2108A>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024418	0.93518	.	.	ENSG00000065183	ENST00000349139	T	0.61274	0.12	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.58925	1.835	0.80722	D	1	D	0.56968	0.978	P	0.58077	0.832	T	0.63954	-0.6520	10	0.49607	T	0.09	-27.7642	16.6245	0.84952	1.0:0.0:0.0:0.0	.	703	Q9UNX4	WDR3_HUMAN	G	703	ENSP00000308179:E703G	ENSP00000308179:E703G	E	+	2	0	WDR3	118296765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.323000	0.78572	0.528000	0.53228	GAG		0.463	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		3	122	0	0	0	0	3	122				
HIST2H3D	653604	broad.mit.edu	37	1	149784913	149784913	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:149784913C>G	ENST00000331491.1	-	1	323	c.324G>C	c.(322-324)acG>acC	p.T108T	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	108					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGCACAGGTTCGTGTCTTCGA	0.627																																						uc010pbl.1		NA																	0					0						c.(322-324)ACG>ACC		histone cluster 2, H3d							32.0	35.0	34.0					1																	149784913		1566	3568	5134	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784913C>G	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.324G>C	1.37:g.149784913C>G						HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.T108T	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	324	-			108					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.324G>C	CCDS41388.1																																																																																				0.627	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		9	39	0	0	0	0	9	39				
FCRL5	83416	broad.mit.edu	37	1	157497570	157497570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:157497570C>T	ENST00000361835.3	-	9	1954	c.1797G>A	c.(1795-1797)tgG>tgA	p.W599*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.W599*|FCRL5_ENST00000368191.3_Nonsense_Mutation_p.W514*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.W599*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	599	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGATAAAACCAGTACAGGA	0.582																																						uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1795-1797)TGG>TGA		Fc receptor-like 5							62.0	65.0	64.0					1																	157497570		2203	4300	6503	SO:0001587	stop_gained	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497570C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1797G>A	1.37:g.157497570C>T	ENSP00000354691:p.Trp599*					FCRL5_uc009wsm.2_Nonsense_Mutation_p.W599*|FCRL5_uc010phv.1_Nonsense_Mutation_p.W599*|FCRL5_uc010phw.1_Nonsense_Mutation_p.W514*	p.W599*	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			9	1955	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	599			Extracellular (Potential).|Ig-like C2-type 6.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	ENST00000361835.3	37	c.1797G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749659	0.69533	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	.	.	.	3.53	-2.1	0.07210	.	1.732920	0.03467	N	0.213031	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7245	0.28753	0.0:0.3709:0.0:0.6291	.	.	.	.	X	599;599;599;514	.	ENSP00000349434:W599X	W	-	3	0	FCRL5	155764194	0.027000	0.19231	0.001000	0.08648	0.006000	0.05464	-0.137000	0.10389	-0.315000	0.08703	-0.142000	0.14014	TGG		0.582	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		21	85	0	0	0	0	21	85				
CD1D	912	broad.mit.edu	37	1	158151354	158151354	+	Silent	SNP	C	C	T	rs369994630		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:158151354C>T	ENST00000368171.3	+	3	670	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	57					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGACGCACAGCTGGAGCAACG	0.632																																						uc001frr.2		NA																	0				ovary(1)	1						c.(169-171)AGC>AGT		CD1D antigen precursor							83.0	93.0	90.0					1																	158151354		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151354C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.171C>T	1.37:g.158151354C>T						CD1D_uc009wsr.1_Silent_p.S57S|CD1D_uc009wss.2_Silent_p.S57S|CD1D_uc009wst.1_5'UTR	p.S57S	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	670	+	all_hematologic(112;0.0378)		57			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.171C>T	CCDS1173.1																																																																																				0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		50	145	0	0	0	0	50	145				
KIFAP3	22920	broad.mit.edu	37	1	170001123	170001123	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:170001123C>G	ENST00000361580.2	-	8	972	c.745G>C	c.(745-747)Gat>Cat	p.D249H	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D171H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D205H|KIFAP3_ENST00000367765.1_Missense_Mutation_p.D209H	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGTCTTCATCAAGTAAACAA	0.333																																						uc001ggv.2		NA																	0				skin(1)	1						c.(745-747)GAT>CAT		kinesin-associated protein 3							112.0	107.0	109.0					1																	170001123		2202	4298	6500	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170001123C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.745G>C	1.37:g.170001123C>G	ENSP00000354560:p.Asp249His						p.D249H	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			8	1016	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		249					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.745G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513659	0.85389	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.69	5.69	0.88448	.	0.204181	0.40385	N	0.001111	T	0.39306	0.1073	L	0.38531	1.155	0.80722	D	1	P	0.42123	0.771	P	0.47786	0.557	T	0.07770	-1.0755	9	.	.	.	-6.1871	19.4111	0.94673	0.0:1.0:0.0:0.0	.	249	Q92845	KIFA3_HUMAN	H	249;209;205;171	ENSP00000354560:D249H;ENSP00000356739:D209H;ENSP00000356741:D205H;ENSP00000444622:D171H	.	D	-	1	0	KIFAP3	168267747	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.196000	0.77805	2.687000	0.91594	0.561000	0.74099	GAT		0.333	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		10	82	0	0	0	0	10	82				
MYO3A	53904	broad.mit.edu	37	10	26482144	26482144	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:26482144A>T	ENST00000265944.5	+	32	4615	c.4449A>T	c.(4447-4449)aaA>aaT	p.K1483N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1483					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGTCTGTAAAGGAGAGGAGC	0.333																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4447-4449)AAA>AAT		myosin IIIA							63.0	62.0	62.0					10																	26482144		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26482144A>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4449A>T	10.37:g.26482144A>T	ENSP00000265944:p.Lys1483Asn					MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.K1483N	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			32	4809	+			1483					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4449A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	a	16.54	3.150522	0.57151	.	.	ENSG00000095777	ENST00000265944	T	0.79033	-1.23	5.68	5.68	0.88126	.	0.221919	0.47093	D	0.000251	T	0.65354	0.2683	L	0.43923	1.385	0.80722	D	1	P	0.44734	0.842	B	0.32805	0.153	T	0.65389	-0.6180	10	0.16896	T	0.51	.	14.17	0.65503	1.0:0.0:0.0:0.0	.	1483	Q8NEV4	MYO3A_HUMAN	N	1483	ENSP00000265944:K1483N	ENSP00000265944:K1483N	K	+	3	2	MYO3A	26522150	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.751000	0.47508	2.172000	0.68678	0.524000	0.50904	AAA		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		3	30	0	0	0	0	3	30				
PARD3	56288	broad.mit.edu	37	10	34671564	34671564	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:34671564G>C	ENST00000374789.3	-	9	1628	c.1303C>G	c.(1303-1305)Cca>Gca	p.P435A	PARD3_ENST00000374788.3_Missense_Mutation_p.P435A|PARD3_ENST00000340077.5_Missense_Mutation_p.P435A|PARD3_ENST00000545693.1_Missense_Mutation_p.P435A|PARD3_ENST00000544292.1_Missense_Mutation_p.P165A|PARD3_ENST00000374790.3_Missense_Mutation_p.P391A|PARD3_ENST00000346874.4_Missense_Mutation_p.P435A|PARD3_ENST00000350537.4_Missense_Mutation_p.P435A|PARD3_ENST00000545260.1_Missense_Mutation_p.P391A|PARD3_ENST00000374794.3_Missense_Mutation_p.P391A|PARD3_ENST00000374776.1_Missense_Mutation_p.P435A|PARD3_ENST00000374773.1_Missense_Mutation_p.P435A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	435					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCGAGGCTGGAGCGGATGGT	0.502																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1303-1305)CCA>GCA		partitioning-defective protein 3 homolog							128.0	102.0	111.0					10																	34671564		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671564G>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1303C>G	10.37:g.34671564G>C	ENSP00000363921:p.Pro435Ala					PARD3_uc010qek.1_Missense_Mutation_p.P435A|PARD3_uc010qel.1_Missense_Mutation_p.P435A|PARD3_uc010qem.1_Missense_Mutation_p.P435A|PARD3_uc010qen.1_Missense_Mutation_p.P435A|PARD3_uc010qeo.1_Missense_Mutation_p.P435A|PARD3_uc010qep.1_Missense_Mutation_p.P391A|PARD3_uc010qeq.1_Missense_Mutation_p.P391A|PARD3_uc001ixo.1_Missense_Mutation_p.P165A|PARD3_uc001ixp.1_Missense_Mutation_p.P300A|PARD3_uc001ixq.1_Missense_Mutation_p.P435A|PARD3_uc001ixr.1_Missense_Mutation_p.P435A|PARD3_uc001ixt.1_Missense_Mutation_p.P256A|PARD3_uc001ixu.1_Missense_Mutation_p.P391A|PARD3_uc001ixs.1_Missense_Mutation_p.P88A	p.P435A	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			9	1303	-		Breast(68;0.0707)	435					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1303C>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463920	0.43736	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.19105	2.57;2.56;2.63;2.63;2.62;2.56;2.56;2.56;2.21;2.17;2.27;2.2	5.88	4.95	0.65309	PDZ/DHR/GLGF (1);	0.519599	0.22581	N	0.058220	T	0.24353	0.0590	L	0.40543	1.245	0.28162	N	0.928921	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.33826	0.03;0.053;0.036;0.03;0.036;0.03;0.03;0.0;0.018;0.018;0.061;0.202;0.427;0.147;0.014	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38683	0.032;0.067;0.047;0.06;0.087;0.032;0.06;0.0;0.027;0.027;0.027;0.087;0.272;0.279;0.016	T	0.13019	-1.0525	10	0.59425	D	0.04	.	17.1464	0.86767	0.0:0.1257:0.8742:0.0	.	391;391;435;435;435;435;435;435;391;435;435;435;435;435;165	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	A	435;391;435;435;435;391;435;391;435;435;435;165	ENSP00000443147:P435A;ENSP00000440857:P391A;ENSP00000363921:P435A;ENSP00000363920:P435A;ENSP00000340591:P435A;ENSP00000363926:P391A;ENSP00000311986:P435A;ENSP00000363922:P391A;ENSP00000363908:P435A;ENSP00000341844:P435A;ENSP00000363905:P435A;ENSP00000444429:P165A	ENSP00000341844:P435A	P	-	1	0	PARD3	34711570	1.000000	0.71417	0.035000	0.18076	0.004000	0.04260	3.631000	0.54280	2.782000	0.95742	0.655000	0.94253	CCA		0.502	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		3	75	0	0	0	0	3	75				
ARID5B	84159	broad.mit.edu	37	10	63759919	63759919	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:63759919T>C	ENST00000279873.7	+	4	982	c.572T>C	c.(571-573)cTg>cCg	p.L191P		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	191					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCTCGATGCTGAAACGCATC	0.532																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(571-573)CTG>CCG		AT rich interactive domain 5B (MRF1-like)							113.0	98.0	103.0					10																	63759919		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63759919T>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.572T>C	10.37:g.63759919T>C	ENSP00000279873:p.Leu191Pro					ARID5B_uc010qil.1_Missense_Mutation_p.L191P	p.L191P	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			4	598	+	Prostate(12;0.016)|all_hematologic(501;0.215)		191					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.572T>C	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273886	0.80580	.	.	ENSG00000150347	ENST00000279873	T	0.54866	0.55	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.70395	0.3219	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.73436	-0.3983	10	0.87932	D	0	-9.438	16.0549	0.80794	0.0:0.0:0.0:1.0	.	191;191	Q14865-3;Q14865	.;ARI5B_HUMAN	P	191	ENSP00000279873:L191P	ENSP00000279873:L191P	L	+	2	0	ARID5B	63429925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.192000	0.70111	0.459000	0.35465	CTG		0.532	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		3	67	0	0	0	0	3	67				
SFXN4	119559	broad.mit.edu	37	10	120917410	120917410	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:120917410G>A	ENST00000355697.2	-	8	463	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SFXN4_ENST00000330036.6_Silent_p.F139F|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	148					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGATGCTGTTGAACGCTGCCA	0.418																																						uc001leb.2		NA																	0				ovary(1)	1						c.(442-444)TTC>TTT		sideroflexin 4							126.0	123.0	124.0					10																	120917410		2203	4300	6503	SO:0001819	synonymous_variant	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120917410G>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.444C>T	10.37:g.120917410G>A						SFXN4_uc001ldy.2_Silent_p.F32F|SFXN4_uc001ldz.2_Silent_p.F32F|SFXN4_uc001lea.2_RNA	p.F148F	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	8	489	-		Lung NSC(174;0.094)|all_lung(145;0.123)	148			Helical; (Potential).		Q6WSU4|Q86TD9	Silent	SNP	ENST00000355697.2	37	c.444C>T	CCDS7610.1																																																																																				0.418	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		9	60	0	0	0	0	9	60				
MKI67	4288	broad.mit.edu	37	10	129907526	129907526	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:129907526C>G	ENST00000368654.3	-	13	2953	c.2578G>C	c.(2578-2580)Gat>Cat	p.D860H	MKI67_ENST00000368653.3_Missense_Mutation_p.D500H|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	860					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCTCAGTATCTGAAGTTTTT	0.433																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2578-2580)GAT>CAT		antigen identified by monoclonal antibody Ki-67							216.0	206.0	210.0					10																	129907526		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907526C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2578G>C	10.37:g.129907526C>G	ENSP00000357643:p.Asp860His					MKI67_uc001lkf.2_Missense_Mutation_p.D500H|MKI67_uc009yav.1_Missense_Mutation_p.D435H|MKI67_uc009yaw.1_Missense_Mutation_p.D10H	p.D860H	NM_002417	NP_002408	P46013	KI67_HUMAN			13	2773	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	860					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2578G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843309	0.32606	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01414	4.97;4.92	3.78	1.81	0.25067	.	4.946150	0.01037	N	0.004247	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.976	P;P;P	0.56042	0.79;0.79;0.621	T	0.49551	-0.8928	10	0.44086	T	0.13	.	9.9255	0.41489	0.0:0.542:0.458:0.0	.	859;500;860	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	860;500;859	ENSP00000357643:D860H;ENSP00000357642:D500H	ENSP00000357642:D500H	D	-	1	0	MKI67	129797516	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.337000	0.19841	0.335000	0.23614	0.563000	0.77884	GAT		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		18	171	0	0	0	0	18	171				
EBF3	253738	broad.mit.edu	37	10	131761669	131761669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:131761669C>A	ENST00000355311.5	-	2	325	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.E85*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	85					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGGTCCTTTCAATCTCCACC	0.557																																						uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(253-255)GAA>TAA		early B-cell factor 3							79.0	86.0	84.0					10																	131761669		2203	4300	6503	SO:0001587	stop_gained	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761669C>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.253G>T	10.37:g.131761669C>A	ENSP00000347463:p.Glu85*					EBF3_uc010qur.1_Nonsense_Mutation_p.E71*	p.E85*	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	312	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	85					A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.405104	0.96051	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	3.45	3.45	0.39498	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2858	14.5175	0.67827	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000347463:E85X	E	-	1	0	EBF3	131651659	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.027000	0.76463	1.453000	0.47775	0.205000	0.17691	GAA		0.557	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		26	122	1	0	1.4e-14	1.6e-14	26	122				
MUC6	4588	broad.mit.edu	37	11	1028716	1028716	+	Silent	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:1028716G>T	ENST00000421673.2	-	13	1571	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	507	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGACCACGAGCTCCAGCC	0.642																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(1519-1521)CTC>CTA		mucin 6, gastric							39.0	44.0	42.0					11																	1028716		2111	4216	6327	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028716G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1521C>A	11.37:g.1028716G>T							p.L507L	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1572	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	507			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.1521C>A	CCDS44513.1																																																																																				0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		4	19	1	0	0.00024832	0.000265142	4	19				
LRRC4C	57689	broad.mit.edu	37	11	40137506	40137506	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:40137506T>G	ENST00000278198.2	-	2	2300	c.337A>C	c.(337-339)Aga>Cga	p.R113R	LRRC4C_ENST00000527150.1_Silent_p.R113R|LRRC4C_ENST00000530763.1_Silent_p.R113R|LRRC4C_ENST00000528697.1_Silent_p.R113R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	113					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATGGTTCTGATATGGTTC	0.438																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(337-339)AGA>CGA		netrin-G1 ligand precursor							76.0	74.0	75.0					11																	40137506		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137506T>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.337A>C	11.37:g.40137506T>G						LRRC4C_uc001mxc.1_Silent_p.R109R|LRRC4C_uc001mxd.1_Silent_p.R109R|LRRC4C_uc001mxb.1_Silent_p.R109R	p.R113R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2301	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	113			LRR 2.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.337A>C	CCDS31464.1																																																																																				0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		16	45	0	0	0	0	16	45				
OR5M8	219484	broad.mit.edu	37	11	56258421	56258421	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:56258421G>T	ENST00000327216.2	-	1	450	c.426C>A	c.(424-426)ttC>ttA	p.F142L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCGTGATGAGGAAGGAGCACA	0.512																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(424-426)TTC>TTA		olfactory receptor, family 5, subfamily M,							98.0	84.0	89.0					11																	56258421		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258421G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.426C>A	11.37:g.56258421G>T	ENSP00000323354:p.Phe142Leu						p.F142L	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	426	-	Esophageal squamous(21;0.00352)		142			Helical; Name=4; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.426C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.789750	0.00623	.	.	ENSG00000181371	ENST00000327216	T	0.00029	8.91	4.35	-3.44	0.04796	GPCR, rhodopsin-like superfamily (1);	0.400808	0.18323	N	0.144758	T	0.00039	0.0001	N	0.00683	-1.26	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28776	-1.0033	10	0.09843	T	0.71	-10.2425	2.7435	0.05260	0.1801:0.3825:0.3081:0.1292	.	142	Q8NGP6	OR5M8_HUMAN	L	142	ENSP00000323354:F142L	ENSP00000323354:F142L	F	-	3	2	OR5M8	56014997	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-5.889000	0.00092	-0.232000	0.09811	0.632000	0.83419	TTC		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		19	85	1	0	5.04e-11	5.69e-11	19	85				
CPSF7	79869	broad.mit.edu	37	11	61196680	61196680	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:61196680T>A	ENST00000394888.4	-	2	200	c.28A>T	c.(28-30)Ata>Tta	p.I10L	RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|CPSF7_ENST00000448745.1_Missense_Mutation_p.I10L|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10L|CPSF7_ENST00000340437.4_Missense_Mutation_p.I53L|SDHAF2_ENST00000537782.1_5'Flank|SDHAF2_ENST00000542074.1_5'Flank|SDHAF2_ENST00000534878.1_5'Flank|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10L	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TCAGCATATATATCAATCAAG	0.478																																						uc001nrq.2		NA																	0				central_nervous_system(1)	1						c.(28-30)ATA>TTA		pre-mRNA cleavage factor I, 59 kDa subunit							188.0	180.0	183.0					11																	61196680		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196680T>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.28A>T	11.37:g.61196680T>A	ENSP00000378352:p.Ile10Leu					SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.I10L|CPSF7_uc001nrp.2_Missense_Mutation_p.I53L|CPSF7_uc001nrr.2_Missense_Mutation_p.I10L|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.I10L	p.I10L	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			2	162	-			10					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.28A>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603605	0.28534	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	.	.	.	5.12	5.12	0.69794	.	0.132800	0.47455	D	0.000238	T	0.46328	0.1387	N	0.11341	0.13	0.45390	D	0.998375	P;B;P;B	0.51147	0.942;0.267;0.942;0.386	P;P;P;P	0.61800	0.894;0.456;0.894;0.658	T	0.39014	-0.9634	9	0.02654	T	1	.	14.7451	0.69485	0.0:0.0:0.0:1.0	.	10;10;53;10	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	L	53;10;10;10;10;10;10;10;10;10;10;10	.	ENSP00000345412:I53L	I	-	1	0	CPSF7	60953256	1.000000	0.71417	0.996000	0.52242	0.803000	0.45373	4.947000	0.63583	2.150000	0.67090	0.460000	0.39030	ATA		0.478	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		35	212	0	0	0	0	35	212				
SLC3A2	6520	broad.mit.edu	37	11	62655847	62655847	+	Silent	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:62655847G>T	ENST00000377890.2	+	12	1743	c.1575G>T	c.(1573-1575)cgG>cgT	p.R525R	SLC3A2_ENST00000377889.2_Silent_p.R463R|SLC3A2_ENST00000535296.1_Silent_p.R494R|SLC3A2_ENST00000377892.1_Silent_p.R556R|SLC3A2_ENST00000536981.1_Silent_p.R70R|SLC3A2_ENST00000377891.2_Silent_p.R526R|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Silent_p.R424R	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	525					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.R556R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGTTCCGGCGGCTGAGTGACC	0.587																																						uc001nwd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1573-1575)CGG>CGT		solute carrier family 3, member 2 isoform c							51.0	50.0	50.0					11																	62655847		2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655847G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1575G>T	11.37:g.62655847G>T						SLC3A2_uc001nwb.2_Silent_p.R556R|SLC3A2_uc001nwc.2_Silent_p.R526R|SLC3A2_uc001nwe.2_Silent_p.R494R|SLC3A2_uc001nwf.2_Silent_p.R463R|SLC3A2_uc001nwg.2_Silent_p.R424R	p.R525R	NM_002394	NP_002385	P08195	4F2_HUMAN			12	1799	+			525			Extracellular (Potential).		Q13543	Silent	SNP	ENST00000377890.2	37	c.1575G>T	CCDS8039.2																																																																																				0.587	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		22	69	1	0	1.5e-11	1.7e-11	22	69				
LIMA1	51474	broad.mit.edu	37	12	50571764	50571764	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:50571764C>T	ENST00000341247.4	-	11	1512	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	LIMA1_ENST00000552491.1_Missense_Mutation_p.G152S|LIMA1_ENST00000552909.1_Missense_Mutation_p.G294S|LIMA1_ENST00000552823.1_Missense_Mutation_p.G295S|LIMA1_ENST00000547825.1_Missense_Mutation_p.G153S|LIMA1_ENST00000552783.1_Missense_Mutation_p.G296S|LIMA1_ENST00000394943.3_Missense_Mutation_p.G456S	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	455					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCCCAAAGCCTTCATCATAG	0.418																																						uc001rwj.3		NA																	0				ovary(1)	1						c.(1363-1365)GGC>AGC		LIM domain and actin binding 1 isoform b							166.0	167.0	166.0					12																	50571764		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571764C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1363G>A	12.37:g.50571764C>T	ENSP00000340184:p.Gly455Ser					LIMA1_uc001rwg.3_Missense_Mutation_p.G153S|LIMA1_uc001rwh.3_Missense_Mutation_p.G294S|LIMA1_uc001rwi.3_Missense_Mutation_p.G296S|LIMA1_uc001rwk.3_Missense_Mutation_p.G456S|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.G455S	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1537	-			455					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1363G>A	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631102	0.87660	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;D;D;D	0.87334	-1.46;-1.44;-1.82;-2.24;-1.51;-1.85;-1.81	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.78049	2.395	0.80722	D	1	D;D;P	0.56968	0.978;0.978;0.817	P;P;P	0.49332	0.607;0.53;0.523	D	0.90782	0.4680	10	0.49607	T	0.09	.	19.8293	0.96628	0.0:1.0:0.0:0.0	.	465;455;294	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	S	152;153;295;456;455;296;294;374	ENSP00000448463:G152S;ENSP00000448706:G153S;ENSP00000450266:G295S;ENSP00000378400:G456S;ENSP00000340184:G455S;ENSP00000448779:G296S;ENSP00000450087:G294S	ENSP00000340184:G455S	G	-	1	0	LIMA1	48858031	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.749000	0.94314	0.655000	0.94253	GGC		0.418	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		8	163	0	0	0	0	8	163				
CEP290	80184	broad.mit.edu	37	12	88535027	88535027	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:88535027G>A	ENST00000552810.1	-	2	401	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	TMTC3_ENST00000266712.6_5'Flank|CEP290_ENST00000309041.7_Missense_Mutation_p.R20C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	20					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCTTGACGGGGCAGGTCA	0.333																																						uc001tar.2		NA																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(58-60)CGT>TGT		centrosomal protein 290kDa							105.0	94.0	97.0					12																	88535027		1828	4073	5901	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88535027G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.58C>T	12.37:g.88535027G>A	ENSP00000448012:p.Arg20Cys					CEP290_uc009zsl.1_5'Flank|TMTC3_uc009zsm.2_5'Flank|TMTC3_uc001tau.2_5'Flank	p.R20C	NM_025114	NP_079390	O15078	CE290_HUMAN			2	402	-			20					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.58C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270363	0.80469	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000550962	T;T;D	0.86694	-0.19;-0.19;-2.16	6.07	5.16	0.70880	.	0.201693	0.42964	D	0.000636	D	0.86711	0.5998	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.56700	0.804	D	0.87943	0.2718	10	0.59425	D	0.04	.	14.1652	0.65473	0.0:0.0:0.7274:0.2726	.	20	O15078	CE290_HUMAN	C	20	ENSP00000448012:R20C;ENSP00000308021:R20C;ENSP00000447623:R20C	ENSP00000308021:R20C	R	-	1	0	CEP290	87059158	0.290000	0.24343	0.997000	0.53966	0.909000	0.53808	1.239000	0.32719	1.517000	0.48917	0.585000	0.79938	CGT		0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		14	27	0	0	0	0	14	27				
FRY	10129	broad.mit.edu	37	13	32653003	32653003	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr13:32653003C>A	ENST00000380250.3	+	2	599	c.103C>A	c.(103-105)Ccg>Acg	p.P35T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	35						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATCAAGCCTCCGGTTCCACC	0.478																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(103-105)CCG>ACG		furry homolog							186.0	183.0	184.0					13																	32653003		1942	4152	6094	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32653003C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.103C>A	13.37:g.32653003C>A	ENSP00000369600:p.Pro35Thr					FRY_uc010tdw.1_RNA	p.P35T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	2	599	+		Lung SC(185;0.0271)	35					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.103C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364514	0.61513	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.24151	1.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.02450	-1.1157	10	0.39692	T	0.17	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	35	Q5TBA9	FRY_HUMAN	T	35;32	ENSP00000369600:P35T	ENSP00000369600:P35T	P	+	1	0	FRY	31551003	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	3.458000	0.53014	2.770000	0.95276	0.655000	0.94253	CCG		0.478	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		41	229	1	0	4.33e-17	4.97e-17	41	229				
MYH6	4624	broad.mit.edu	37	14	23874010	23874010	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:23874010C>A	ENST00000356287.3	-	6	581	c.552G>T	c.(550-552)aaG>aaT	p.K184N	MYH6_ENST00000405093.3_Missense_Mutation_p.K184N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	184	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTTCACAGTCTTCCCCGCCC	0.552																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(550-552)AAG>AAT		myosin heavy chain 6							106.0	90.0	95.0					14																	23874010		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874010C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.552G>T	14.37:g.23874010C>A	ENSP00000348634:p.Lys184Asn					MYH6_uc010akp.1_Missense_Mutation_p.K184N	p.K184N	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	7	619	-	all_cancers(95;2.54e-05)		184			ATP.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.552G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	17.34	3.363919	0.61513	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.93076	-3.16;-3.16	3.31	2.41	0.29592	Myosin head, motor domain (3);	.	.	.	.	D	0.98270	0.9427	H	0.99976	5.16	0.51767	D	0.999935	D;D	0.61697	0.99;0.99	D;D	0.72075	0.976;0.976	D	0.96279	0.9205	9	0.87932	D	0	.	9.3295	0.38012	0.0:0.8891:0.0:0.1109	.	184;184	D9YZU2;P13533	.;MYH6_HUMAN	N	184	ENSP00000386041:K184N;ENSP00000348634:K184N	ENSP00000348634:K184N	K	-	3	2	MYH6	22943850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.332000	0.43903	0.720000	0.32209	0.549000	0.68633	AAG		0.552	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	58	1	0	1.07e-07	1.19e-07	7	58				
SIPA1L1	26037	broad.mit.edu	37	14	72152344	72152344	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:72152344A>T	ENST00000555818.1	+	10	3718	c.3370A>T	c.(3370-3372)Agg>Tgg	p.R1124W	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R599W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1124W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1124W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1124					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCACTAGAGAGGCGGTAAGT	0.507																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(3370-3372)AGG>TGG		signal-induced proliferation-associated 1 like							41.0	39.0	40.0					14																	72152344		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152344A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3370A>T	14.37:g.72152344A>T	ENSP00000450832:p.Arg1124Trp					SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1124W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1124W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1124W|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R599W	p.R1124W	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3718	+			1124					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3370A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152164	0.78001	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.38	1.21	0.21127	.	0.045673	0.85682	D	0.000000	T	0.52468	0.1736	N	0.22421	0.69	0.42896	D	0.994219	P;P;P;D;P	0.65815	0.612;0.758;0.483;0.995;0.876	P;B;B;P;B	0.61003	0.584;0.113;0.375;0.882;0.406	T	0.55444	-0.8140	10	0.62326	D	0.03	-26.8593	12.6171	0.56584	0.6024:0.3975:0.0:0.0	.	599;1124;599;1124;1124	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	W	1124;1124;1124;599	ENSP00000370630:R1124W;ENSP00000450832:R1124W;ENSP00000351352:R1124W;ENSP00000440682:R599W	ENSP00000351352:R1124W	R	+	1	2	SIPA1L1	71222097	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	1.083000	0.30815	0.364000	0.24374	0.459000	0.35465	AGG		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	33	0	0	0	0	7	33				
FMN1	342184	broad.mit.edu	37	15	33358886	33358886	+	Intron	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:33358886T>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Silent_p.T400T|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Silent_p.T400T			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTCCAGGGCTGTCTCTGGCG	0.577																																						uc001zhf.3		NA																	0				ovary(1)	1						c.(1198-1200)ACA>ACT		formin 1							61.0	62.0	62.0					15																	33358886		2002	4170	6172	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358886T>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1611A>T	15.37:g.33358886T>A						FMN1_uc001zhg.2_Silent_p.T400T	p.T400T	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1200	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1200A>T																																																																																					0.577	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		16	58	0	0	0	0	16	58				
NUTM1	256646	broad.mit.edu	37	15	34648621	34648621	+	Silent	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:34648621A>G	ENST00000333756.4	+	7	2483	c.2328A>G	c.(2326-2328)ctA>ctG	p.L776L	NUTM1_ENST00000438749.3_Silent_p.L794L|NUTM1_ENST00000537011.1_Silent_p.L804L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	776						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGAAACCCTAGTACCTGGGG	0.537																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2326-2328)CTA>CTG		nuclear protein in testis							72.0	71.0	72.0					15																	34648621		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34648621A>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2328A>G	15.37:g.34648621A>G						C15orf55_uc010ucc.1_Silent_p.L804L|C15orf55_uc010ucd.1_Silent_p.L794L	p.L776L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2483	+		all_lung(180;2.78e-08)	776					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2328A>G	CCDS32190.1																																																																																				0.537	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		15	81	0	0	0	0	15	81				
THBS1	7057	broad.mit.edu	37	15	39884784	39884784	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884784G>A	ENST00000260356.5	+	17	2713	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	850					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTCTGACTCAGACCGCATTGG	0.448																																						uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2548-2550)GAC>AAC		thrombospondin 1 precursor	Becaplermin(DB00102)						46.0	41.0	43.0					15																	39884784		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884784G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2548G>A	15.37:g.39884784G>A	ENSP00000260356:p.Asp850Asn					THBS1_uc010bbi.2_Missense_Mutation_p.D322N	p.D850N	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2727	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	850			TSP type-3 6.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2548G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094205	0.76870	.	.	ENSG00000137801	ENST00000260356	D	0.99488	-6.0	5.0	4.08	0.47627	.	0.000000	0.38058	N	0.001840	D	0.99366	0.9777	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.98903	1.0777	10	0.46703	T	0.11	-29.3157	13.5268	0.61599	0.0763:0.0:0.9237:0.0	.	765;850	B4E3J7;P07996	.;TSP1_HUMAN	N	850	ENSP00000260356:D850N	ENSP00000260356:D850N	D	+	1	0	THBS1	37672076	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.809000	0.99208	1.233000	0.43693	0.655000	0.94253	GAC		0.448	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	14	0	0	0	0	5	14				
THBS1	7057	broad.mit.edu	37	15	39884823	39884823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884823G>A	ENST00000260356.5	+	17	2752	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	863					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCAGGATATTGATGAAGATGG	0.468																																						uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2587-2589)GAT>AAT		thrombospondin 1 precursor	Becaplermin(DB00102)						88.0	68.0	74.0					15																	39884823		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884823G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2587G>A	15.37:g.39884823G>A	ENSP00000260356:p.Asp863Asn					THBS1_uc010bbi.2_Missense_Mutation_p.D335N	p.D863N	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2766	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	863			TSP type-3 6.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2587G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039385	0.93630	.	.	ENSG00000137801	ENST00000260356	D	0.99919	-8.0	5.0	5.0	0.66597	.	0.000000	0.37178	N	0.002207	D	0.99947	0.9977	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.95955	0.8957	10	0.87932	D	0	-20.1068	18.6342	0.91371	0.0:0.0:1.0:0.0	.	778;863	B4E3J7;P07996	.;TSP1_HUMAN	N	863	ENSP00000260356:D863N	ENSP00000260356:D863N	D	+	1	0	THBS1	37672115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.996000	0.88334	2.474000	0.83562	0.655000	0.94253	GAT		0.468	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		7	19	0	0	0	0	7	19				
LDHAL6B	92483	broad.mit.edu	37	15	59499449	59499449	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:59499449G>A	ENST00000307144.4	+	1	408	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	104					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GGATCTTGATGAAGACAAACT	0.438																																						uc002agb.2		NA																	0					0						c.(310-312)GAA>AAA		lactate dehydrogenase A-like 6B	NADH(DB00157)						124.0	122.0	123.0					15																	59499449		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499449G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.310G>A	15.37:g.59499449G>A	ENSP00000302393:p.Glu104Lys					MYO1E_uc002aga.2_Intron	p.E104K	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	408	+			104			NAD (By similarity).		Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.310G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001794	0.54254	.	.	ENSG00000171989	ENST00000307144	D	0.87809	-2.3	1.47	1.47	0.22746	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.085744	0.45361	U	0.000365	T	0.78194	0.4245	L	0.31578	0.945	0.48632	D	0.999687	B	0.28400	0.21	B	0.32393	0.145	T	0.71286	-0.4638	10	0.39692	T	0.17	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	104	Q9BYZ2	LDH6B_HUMAN	K	104	ENSP00000302393:E104K	ENSP00000302393:E104K	E	+	1	0	LDHAL6B	57286741	1.000000	0.71417	0.040000	0.18447	0.027000	0.11550	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GAA		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		18	122	0	0	0	0	18	122				
MORF4L1	10933	broad.mit.edu	37	15	79172896	79172896	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:79172896A>G	ENST00000331268.5	+	3	334	c.130A>G	c.(130-132)Ata>Gta	p.I44V	MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.I44V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.I69V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.I44V|MORF4L1_ENST00000561171.1_3'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	44	Interaction with KAT8.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GAAATACTTCATACATTACAG	0.289																																						uc002bel.2		NA																	0					0						c.(130-132)ATA>GTA		MORF-related gene 15 isoform 2							62.0	59.0	60.0					15																	79172896		2194	4287	6481	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79172896A>G	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.130A>G	15.37:g.79172896A>G	ENSP00000331310:p.Ile44Val					MORF4L1_uc010bli.1_Missense_Mutation_p.I44V|MORF4L1_uc010blj.1_Missense_Mutation_p.I44V|MORF4L1_uc002bem.2_Missense_Mutation_p.I44V|MORF4L1_uc010une.1_5'UTR	p.I44V	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			3	318	+			44			Interaction with MYST1.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.130A>G	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004405	0.54254	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.27104	1.69;1.69;1.93	5.61	5.61	0.85477	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	N	0.20881	0.62	0.80722	D	1	B;B;B;B	0.29531	0.033;0.13;0.026;0.247	B;B;B;B	0.38616	0.03;0.23;0.018;0.277	T	0.02512	-1.1148	10	0.02654	T	1	1.1681	14.0436	0.64690	1.0:0.0:0.0:0.0	.	44;69;44;44	A5D8W6;B3KTM8;Q9UBU8-2;Q9UBU8	.;.;.;MO4L1_HUMAN	V	69;44;44	ENSP00000368850:I69V;ENSP00000408880:I44V;ENSP00000331310:I44V	ENSP00000331310:I44V	I	+	1	0	MORF4L1	76959951	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	8.476000	0.90421	2.263000	0.75096	0.377000	0.23210	ATA		0.289	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		10	30	0	0	0	0	10	30				
DET1	55070	broad.mit.edu	37	15	89074302	89074302	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:89074302T>C	ENST00000268148.8	-	2	780	c.635A>G	c.(634-636)gAc>gGc	p.D212G	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.D223G|DET1_ENST00000564406.1_Missense_Mutation_p.D223G|DET1_ENST00000558413.1_Intron	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	212						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GACCACCTTGTCACACTTGAA	0.502																																						uc002bmr.2		NA																	0				lung(1)|pancreas(1)	2						c.(634-636)GAC>GGC		de-etiolated 1 isoform 2							72.0	70.0	70.0					15																	89074302		1990	4167	6157	SO:0001583	missense	55070					nucleus		g.chr15:89074302T>C	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.635A>G	15.37:g.89074302T>C	ENSP00000268148:p.Asp212Gly					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.D223G	p.D212G	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	787	-	Lung NSC(78;0.105)|all_lung(78;0.182)		212					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.635A>G	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352435	0.82132	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86263	0.1656	9	0.87932	D	0	-39.9735	16.0034	0.80327	0.0:0.0:0.0:1.0	.	212;223	Q7L5Y6;B3KNN6	DET1_HUMAN;.	G	223;212	.	ENSP00000268148:D212G	D	-	2	0	DET1	86875306	1.000000	0.71417	0.962000	0.40283	0.983000	0.72400	7.415000	0.80131	2.371000	0.80710	0.533000	0.62120	GAC		0.502	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		13	53	0	0	0	0	13	53				
KIAA0430	9665	broad.mit.edu	37	16	15694394	15694394	+	Silent	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:15694394G>C	ENST00000396368.3	-	25	4910	c.4704C>G	c.(4702-4704)ctC>ctG	p.L1568L	KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000548025.1_Silent_p.L1565L|KIAA0430_ENST00000602337.1_Silent_p.L1565L|KIAA0430_ENST00000344181.3_Silent_p.L1256L|KIAA0430_ENST00000551742.1_Silent_p.L1568L|KIAA0430_ENST00000540441.2_Silent_p.L1403L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1568					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGAGAGACTGAGTGAACTCA	0.552																																						uc002ddr.2		NA																	0					0						c.(4702-4704)CTC>CTG		limkain b1							95.0	96.0	96.0					16																	15694394		1950	4129	6079	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15694394G>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4704C>G	16.37:g.15694394G>C						KIAA0430_uc002ddq.2_Silent_p.L1402L|KIAA0430_uc010uzv.1_Silent_p.L1564L|KIAA0430_uc010uzw.1_Silent_p.L1567L	p.L1568L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			25	4897	-			1567					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.4704C>G	CCDS10562.2																																																																																				0.552	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		22	74	0	0	0	0	22	74				
ADAMTS18	170692	broad.mit.edu	37	16	77397755	77397755	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:77397755T>G	ENST00000282849.5	-	6	1418	c.1000A>C	c.(1000-1002)Att>Ctt	p.I334L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	334	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCACTTCCAATAGTCCCATCT	0.383																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1000-1002)ATT>CTT		ADAM metallopeptidase with thrombospondin type 1							94.0	84.0	87.0					16																	77397755		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77397755T>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1000A>C	16.37:g.77397755T>G	ENSP00000282849:p.Ile334Leu					ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.I30L|ADAMTS18_uc010vni.1_RNA	p.I334L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			6	1419	-			334			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1000A>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535465	0.64972	.	.	ENSG00000140873	ENST00000282849	D	0.85629	-2.01	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	L	0.41961	1.31	0.58432	D	0.999999	P	0.35656	0.514	P	0.49140	0.601	T	0.81265	-0.1011	10	0.16420	T	0.52	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	334	Q8TE60	ATS18_HUMAN	L	334	ENSP00000282849:I334L	ENSP00000282849:I334L	I	-	1	0	ADAMTS18	75955256	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.734000	0.68580	2.188000	0.69820	0.528000	0.53228	ATT		0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			8	41	0	0	0	0	8	41				
RNMTL1	55178	broad.mit.edu	37	17	691248	691248	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:691248G>A	ENST00000304478.4	+	3	709	c.603G>A	c.(601-603)aaG>aaA	p.K201K	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CATATCCAAAGACTCAGCTTC	0.483																																						uc002frw.2		NA																	0				ovary(1)	1						c.(601-603)AAG>AAA		RNA methyltransferase like 1							213.0	210.0	211.0					17																	691248		2203	4300	6503	SO:0001819	synonymous_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:691248G>A	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.603G>A	17.37:g.691248G>A							p.K201K	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	3	709	+			201						Silent	SNP	ENST00000304478.4	37	c.603G>A	CCDS10997.1																																																																																				0.483	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		14	187	0	0	0	0	14	187				
MNT	4335	broad.mit.edu	37	17	2298243	2298243	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:2298243T>G	ENST00000174618.4	-	2	984	c.579A>C	c.(577-579)ccA>ccC	p.P193P	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	193					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCAGCGTGGGTGGGGGCGGCT	0.672																																						uc002fur.2		NA																	0				skin(1)	1						c.(577-579)CCA>CCC		MAX binding protein							10.0	12.0	11.0					17																	2298243		2193	4281	6474	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298243T>G	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.579A>C	17.37:g.2298243T>G							p.P193P	NM_020310	NP_064706	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	831	-			193					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.579A>C	CCDS11018.1																																																																																				0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		4	13	0	0	0	0	4	13				
NEURL4	84461	broad.mit.edu	37	17	7230951	7230951	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7230951C>A	ENST00000399464.2	-	2	550	c.535G>T	c.(535-537)Ggt>Tgt	p.G179C	NEURL4_ENST00000315614.7_Missense_Mutation_p.G179C|NEURL4_ENST00000570460.1_Missense_Mutation_p.G179C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	179	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCCACACCGCAATCCCGC	0.652																																						uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(535-537)GGT>TGT		neuralized homolog 4 isoform 1							42.0	55.0	51.0					17																	7230951		2123	4239	6362	SO:0001583	missense	84461						protein binding	g.chr17:7230951C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.535G>T	17.37:g.7230951C>A	ENSP00000382390:p.Gly179Cys					NEURL4_uc002ggb.1_Missense_Mutation_p.G179C|NEURL4_uc002ggc.1_5'Flank	p.G179C	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			2	542	-			179			NHR 1.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.535G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521390	0.85600	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.79247	-1.25;-1.25	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);NEUZ (1);	0.000000	0.85682	D	0.000000	D	0.90796	0.7110	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92556	0.6054	10	0.87932	D	0	-16.7745	16.6242	0.84937	0.0:1.0:0.0:0.0	.	179;179	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	179	ENSP00000319826:G179C;ENSP00000382390:G179C	ENSP00000319826:G179C	G	-	1	0	NEURL4	7171675	1.000000	0.71417	0.786000	0.31890	0.967000	0.64934	6.768000	0.74980	2.731000	0.93534	0.650000	0.86243	GGT		0.652	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		32	43	1	0	2.2e-25	2.56e-25	32	43				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	42	1	0	1.63e-23	1.89e-23	40	42				
WRAP53	55135	broad.mit.edu	37	17	7592167	7592167	+	Silent	SNP	A	A	G	rs111433356		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7592167A>G	ENST00000316024.5	+	1	2549	c.201A>G	c.(199-201)ctA>ctG	p.L67L	WRAP53_ENST00000534050.1_Silent_p.L67L|RP11-199F11.2_ENST00000571370.1_RNA|WRAP53_ENST00000396463.2_Silent_p.L67L|WRAP53_ENST00000431639.2_Silent_p.L67L|TP53_ENST00000445888.2_5'Flank|TP53_ENST00000420246.2_5'Flank|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000455263.2_5'Flank|WRAP53_ENST00000457584.2_Silent_p.L67L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	67					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCAGGAGCTACGGGAGGGGG	0.577																																						uc010vuh.1		NA																	0					0						c.(199-201)CTA>CTG		WD repeat domain 79 isoform 2							56.0	73.0	67.0					17																	7592167		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7592167A>G	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.201A>G	17.37:g.7592167A>G						WRAP53_uc010vui.1_Silent_p.L67L|WRAP53_uc002gip.2_Silent_p.L67L|WRAP53_uc002gir.2_Silent_p.L67L|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.L67L|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	p.L67L	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			2	356	+			67					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.201A>G	CCDS11119.1																																																																																				0.577	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		29	90	0	0	0	0	29	90				
PER1	5187	broad.mit.edu	37	17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.T866P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		central_nervous_system(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(2596-2598)ACC>CCC	Other_conserved_DNA_damage_response_genes	period 1																																				SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047060T>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2596A>C	17.37:g.8047060T>G	ENSP00000314420:p.Thr866Pro					PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron	p.T866P	NM_002616	NP_002607	O15534	PER1_HUMAN			19	2834	-			866			Pro-rich.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2596A>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	7.008	0.556287	0.13436	.	.	ENSG00000179094	ENST00000317276	T	0.14893	2.47	5.42	1.94	0.25998	.	0.240541	0.41823	D	0.000811	T	0.12774	0.0310	L	0.58510	1.815	0.80722	D	1	B	0.21381	0.055	B	0.15052	0.012	T	0.19976	-1.0289	10	0.42905	T	0.14	-6.4874	0.9995	0.01474	0.1839:0.4226:0.1778:0.2157	.	866	O15534	PER1_HUMAN	P	866	ENSP00000314420:T866P	ENSP00000314420:T866P	T	-	1	0	PER1	7987785	0.361000	0.24972	1.000000	0.80357	0.452000	0.32318	-0.124000	0.10595	1.268000	0.44264	-0.468000	0.05107	ACC		0.667	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			4	24	0	0	0	0	4	24				
MYH8	4626	broad.mit.edu	37	17	10293886	10293886	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:10293886C>G	ENST00000403437.2	-	40	5793	c.5699G>C	c.(5698-5700)cGc>cCc	p.R1900P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1900					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGAGTTTGCGGAATTTAGA	0.453									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(5698-5700)CGC>CCC		myosin, heavy chain 8, skeletal muscle,							101.0	105.0	103.0					17																	10293886		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10293886C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5699G>C	17.37:g.10293886C>G	ENSP00000384330:p.Arg1900Pro					uc002gml.1_Intron	p.R1900P	NM_002472	NP_002463	P13535	MYH8_HUMAN			40	5794	-			1900			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5699G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119568	0.77323	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85258	-1.96	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42682	U	0.000680	D	0.95503	0.8539	H	0.97390	3.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96930	0.9680	10	0.87932	D	0	.	18.8299	0.92133	0.0:1.0:0.0:0.0	.	1900	P13535	MYH8_HUMAN	P	1900	ENSP00000384330:R1900P	ENSP00000252173:R1900P	R	-	2	0	MYH8	10234611	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.607000	0.82883	2.677000	0.91161	0.650000	0.86243	CGC		0.453	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		19	143	0	0	0	0	19	143				
FLII	2314	broad.mit.edu	37	17	18156743	18156743	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:18156743C>T	ENST00000327031.4	-	9	1110	c.885G>A	c.(883-885)aaG>aaA	p.K295K	FLII_ENST00000379450.4_Silent_p.K210K|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000578558.1_Silent_p.K295K|FLII_ENST00000545457.2_Silent_p.K241K|FLII_ENST00000579294.1_Silent_p.K284K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	295	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTACAGCTTCTTCAGCTTGC	0.587																																						uc002gsr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(883-885)AAG>AAA		flightless I homolog							74.0	72.0	73.0					17																	18156743		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18156743C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.885G>A	17.37:g.18156743C>T						FLII_uc002gsq.1_Silent_p.K167K|FLII_uc010cpy.1_Silent_p.K284K|FLII_uc010vxn.1_Silent_p.K264K|FLII_uc010vxo.1_Silent_p.K241K|FLII_uc002gss.1_Silent_p.K295K	p.K295K	NM_002018	NP_002009	Q13045	FLII_HUMAN			9	936	-	all_neural(463;0.228)		295			Interaction with LRRFIP1 and LRRFIP2.|LRR 13.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.885G>A	CCDS11192.1																																																																																				0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		29	61	0	0	0	0	29	61				
COPRS	55352	broad.mit.edu	37	17	30179963	30179963	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:30179963C>G	ENST00000302362.6	-	3	390	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	COPRS_ENST00000378634.2_Missense_Mutation_p.E73Q	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	85					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TCAGAGTCCTCCTCATCCATG	0.522																																						uc002hgp.2		NA																	0					0						c.(253-255)GAG>CAG		chromosome 17 open reading frame 79							233.0	236.0	235.0					17																	30179963		2203	4300	6503	SO:0001583	missense	55352				histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding	g.chr17:30179963C>G	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.253G>C	17.37:g.30179963C>G	ENSP00000304327:p.Glu85Gln					C17orf79_uc010css.2_RNA	p.E85Q	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN			3	361	-		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)	85					A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.253G>C	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462813	0.26248	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.48201	0.82;0.82	5.07	4.07	0.47477	.	0.239779	0.29053	N	0.013291	T	0.51736	0.1692	L	0.32530	0.975	0.25824	N	0.984259	D	0.69078	0.997	P	0.62184	0.899	T	0.41963	-0.9479	10	0.48119	T	0.1	-21.6389	10.5991	0.45356	0.1927:0.8073:0.0:0.0	.	85	Q9NQ92	COPR5_HUMAN	Q	85;73	ENSP00000304327:E85Q;ENSP00000367901:E73Q	ENSP00000304327:E85Q	E	-	1	0	C17orf79	27204076	0.960000	0.32886	0.626000	0.29213	0.728000	0.41692	2.794000	0.47853	1.078000	0.41014	0.467000	0.42956	GAG		0.522	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		26	243	0	0	0	0	26	243				
CCL15	6359	broad.mit.edu	37	17	34325338	34325338	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:34325338C>T	ENST00000354059.4	-	3	778	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.E76K|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	76					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGAGCACTCGCTGCTCGTT	0.522																																						uc010wcu.1		NA																	0				ovary(1)	1						c.(226-228)GAG>AAG		chemokine (C-C motif) ligand 15 precursor							96.0	76.0	83.0					17																	34325338		2203	4300	6503	SO:0001583	missense	6359				cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	g.chr17:34325338C>T	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.226G>A	17.37:g.34325338C>T	ENSP00000293276:p.Glu76Lys					CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	p.E76K	NM_032965	NP_116741	Q16663	CCL15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	795	-		Ovarian(249;0.17)	76					B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	c.226G>A	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	C	1.149	-0.647265	0.03506	.	.	ENSG00000161574	ENST00000354059	T	0.13420	2.59	4.55	-0.169	0.13339	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.672870	0.03322	N	0.192140	T	0.04272	0.0118	N	0.01515	-0.825	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.34204	-0.9838	10	0.09590	T	0.72	.	3.2374	0.06770	0.1602:0.3828:0.3592:0.0978	.	76	Q16663	CCL15_HUMAN	K	76	ENSP00000293276:E76K	ENSP00000293276:E76K	E	-	1	0	CCL15	31349451	0.000000	0.05858	0.114000	0.21550	0.000000	0.00434	-1.030000	0.03581	0.229000	0.21039	-0.137000	0.14449	GAG		0.522	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		3	41	0	0	0	0	3	41				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						uc002htw.2		NA																	2	Substitution - Missense(2)		kidney(2)		0						c.(235-237)CGC>CAC		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.2_Missense_Mutation_p.R79H|THRA_uc002htx.2_Missense_Mutation_p.R79H	p.R79H	NM_003250	NP_003241	P10827	THA_HUMAN			5	719	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79			Nuclear receptor.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			4	105	0	0	0	0	4	105				
ABCA10	10349	broad.mit.edu	37	17	67189687	67189687	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:67189687C>A	ENST00000269081.4	-	15	2497	c.1588G>T	c.(1588-1590)Ggt>Tgt	p.G530C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	530	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTGCCCACCACTTAATTTT	0.299																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1588-1590)GGT>TGT		ATP-binding cassette, sub-family A, member 10							77.0	79.0	78.0					17																	67189687		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67189687C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1588G>T	17.37:g.67189687C>A	ENSP00000269081:p.Gly530Cys					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G131C	p.G530C	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			15	2467	-	Breast(10;6.95e-12)		530			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1588G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592031	0.66219	.	.	ENSG00000154263	ENST00000269081	T	0.57107	0.42	3.96	3.96	0.45880	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.232076	0.21551	U	0.072722	D	0.84070	0.5391	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.91342	0.5098	10	0.87932	D	0	.	16.2012	0.82078	0.0:1.0:0.0:0.0	.	530;530	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	C	530	ENSP00000269081:G530C	ENSP00000269081:G530C	G	-	1	0	ABCA10	64701282	0.994000	0.37717	0.773000	0.31616	0.913000	0.54294	1.519000	0.35888	2.017000	0.59298	0.557000	0.71058	GGT		0.299	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		7	13	1	0	0.000274275	0.000290048	7	13				
SETBP1	26040	broad.mit.edu	37	18	42530201	42530201	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:42530201C>G	ENST00000282030.5	+	4	1192	c.896C>G	c.(895-897)cCa>cGa	p.P299R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	299						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACAGCTCACCAGCCCCACCC	0.572									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(895-897)CCA>CGA		SET binding protein 1 isoform a							50.0	56.0	54.0					18																	42530201		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530201C>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.896C>G	18.37:g.42530201C>G	ENSP00000282030:p.Pro299Arg						p.P299R	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1192	+			299					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.896C>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971994	0.34754	.	.	ENSG00000152217	ENST00000282030	T	0.35048	1.33	5.61	4.68	0.58851	.	0.279137	0.34411	N	0.003991	T	0.20659	0.0497	N	0.19112	0.55	0.31737	N	0.636347	B	0.33583	0.418	B	0.30943	0.122	T	0.11324	-1.0592	10	0.15952	T	0.53	.	11.3564	0.49617	0.1407:0.7236:0.1357:0.0	.	299	Q9Y6X0	SETBP_HUMAN	R	299	ENSP00000282030:P299R	ENSP00000282030:P299R	P	+	2	0	SETBP1	40784199	0.061000	0.20836	1.000000	0.80357	0.827000	0.46813	1.636000	0.37144	2.813000	0.96785	0.655000	0.94253	CCA		0.572	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	59	0	0	0	0	12	59				
MATK	4145	broad.mit.edu	37	19	3779783	3779783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:3779783C>T	ENST00000310132.6	-	9	1153	c.755G>A	c.(754-756)gGt>gAt	p.G252D	MATK_ENST00000395045.2_Missense_Mutation_p.G253D|MATK_ENST00000585778.1_Missense_Mutation_p.G252D|MATK_ENST00000395040.2_Missense_Mutation_p.G211D	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTACTCACCCTGCAGGAC	0.627																																						uc002lyt.2		NA																	0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(754-756)GGT>GAT		megakaryocyte-associated tyrosine kinase isoform							52.0	52.0	52.0					19																	3779783		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779783C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.755G>A	19.37:g.3779783C>T	ENSP00000308734:p.Gly252Asp					MATK_uc002lyv.2_Missense_Mutation_p.G253D|MATK_uc002lyu.2_Missense_Mutation_p.G211D|MATK_uc010dtq.2_Missense_Mutation_p.G252D	p.G252D	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1155	-		Hepatocellular(1079;0.137)	252			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.755G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853459	0.71719	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.86956	-2.19;-2.19;-2.19	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.94368	0.8189	M	0.89840	3.065	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	0.95667	0.8720	10	0.87932	D	0	-24.4444	15.6441	0.77033	0.0:1.0:0.0:0.0	.	252;253;252	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	D	253;252;211	ENSP00000378485:G253D;ENSP00000308734:G252D;ENSP00000378481:G211D	ENSP00000308734:G252D	G	-	2	0	MATK	3730783	1.000000	0.71417	0.998000	0.56505	0.611000	0.37282	5.538000	0.67193	2.004000	0.58718	0.306000	0.20318	GGT		0.627	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		8	64	0	0	0	0	8	64				
MAP2K2	5605	broad.mit.edu	37	19	4110577	4110577	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:4110577G>A	ENST00000262948.5	-	3	633	c.380C>T	c.(379-381)tCg>tTg	p.S127L	MAP2K2_ENST00000394867.4_Missense_Mutation_p.S30L|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GATGTACGGCGAGTTGCATTC	0.612																																						uc002lzk.2		NA																	0					0						c.(379-381)TCG>TTG		mitogen-activated protein kinase kinase 2							90.0	74.0	79.0					19																	4110577		2203	4300	6503	SO:0001583	missense	5605	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4110577G>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.380C>T	19.37:g.4110577G>A	ENSP00000262948:p.Ser127Leu						p.S127L	NM_030662	NP_109587	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	634	-		Hepatocellular(1079;0.137)	127			Protein kinase.			Missense_Mutation	SNP	ENST00000262948.5	37	c.380C>T	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.780102	0.90195	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	T;T	0.67171	-0.25;-0.25	5.3	5.3	0.74995	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	D	0.84428	0.5470	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87248	0.2271	10	0.87932	D	0	-30.0461	17.5089	0.87754	0.0:0.0:1.0:0.0	.	127	P36507	MP2K2_HUMAN	L	127;30	ENSP00000262948:S127L;ENSP00000378336:S30L	ENSP00000262948:S127L	S	-	2	0	MAP2K2	4061577	1.000000	0.71417	0.950000	0.38849	0.586000	0.36452	9.733000	0.98818	2.471000	0.83476	0.561000	0.74099	TCG		0.612	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			8	48	0	0	0	0	8	48				
ZNF441	126068	broad.mit.edu	37	19	11888528	11888528	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:11888528A>G	ENST00000357901.4	+	2	208	c.106A>G	c.(106-108)Acc>Gcc	p.T36A	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	36	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)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGCAGGAAACCATCAGAAA	0.423																																						uc010dyj.2		NA																	0				ovary(1)	1						c.(106-108)ACC>GCC		zinc finger protein 441							150.0	126.0	133.0					19																	11888528		692	1591	2283	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11888528A>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.106A>G	19.37:g.11888528A>G	ENSP00000350576:p.Thr36Ala					ZNF441_uc002msn.3_5'UTR	p.T36A	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			2	300	+			36			KRAB.			Missense_Mutation	SNP	ENST00000357901.4	37	c.106A>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	a	17.90	3.502481	0.64298	.	.	ENSG00000197044	ENST00000357901	T	0.01947	4.54	1.75	0.677	0.17964	Krueppel-associated box (4);	.	.	.	.	T	0.06645	0.0170	H	0.97806	4.08	0.22401	N	0.999135	P	0.36587	0.559	B	0.28784	0.094	T	0.15925	-1.0420	9	0.72032	D	0.01	.	4.7419	0.13017	0.8125:0.0:0.1875:0.0	.	36	Q8N8Z8	ZN441_HUMAN	A	36	ENSP00000350576:T36A	ENSP00000350576:T36A	T	+	1	0	ZNF441	11749528	0.928000	0.31464	0.158000	0.22627	0.957000	0.61999	3.367000	0.52350	-0.007000	0.14345	0.254000	0.18369	ACC		0.423	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		10	45	0	0	0	0	10	45				
ABHD8	79575	broad.mit.edu	37	19	17411962	17411962	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:17411962T>C	ENST00000247706.3	-	2	703	c.464A>G	c.(463-465)aAg>aGg	p.K155R	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GATGGTCCTCTTGGGGCGCCT	0.682																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NA																	0					0						c.(463-465)AAG>AGG		abhydrolase domain containing 8							38.0	42.0	40.0					19																	17411962		2201	4298	6499	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411962T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.464A>G	19.37:g.17411962T>C	ENSP00000247706:p.Lys155Arg						p.K155R	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	704	-			155					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.464A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704826	0.88924	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.34472	1.36	5.03	5.03	0.67393	.	0.102235	0.64402	D	0.000003	T	0.47021	0.1423	L	0.34521	1.04	0.54753	D	0.999981	D	0.63880	0.993	D	0.72625	0.978	T	0.39941	-0.9589	10	0.42905	T	0.14	-36.9796	12.7189	0.57131	0.0:0.0:0.0:1.0	.	155	Q96I13	ABHD8_HUMAN	R	155;101	ENSP00000247706:K155R	ENSP00000247706:K155R	K	-	2	0	ABHD8	17272962	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.671000	0.68095	1.906000	0.55180	0.459000	0.35465	AAG		0.682	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	45	0	0	0	0	13	45				
ZNF493	284443	broad.mit.edu	37	19	21606158	21606158	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:21606158A>T	ENST00000355504.4	+	2	579	c.313A>T	c.(313-315)Act>Tct	p.T105S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.T233S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	105					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAGTTCATACTGGAGAGAA	0.368																																						uc002npx.2		NA																	0				ovary(1)	1						c.(313-315)ACT>TCT		zinc finger protein 493 isoform 1							40.0	45.0	43.0					19																	21606158		2197	4293	6490	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606158A>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.313A>T	19.37:g.21606158A>T	ENSP00000347691:p.Thr105Ser					ZNF493_uc002npw.2_Missense_Mutation_p.T233S|ZNF493_uc002npy.2_Missense_Mutation_p.T105S	p.T105S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	593	+			105					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.313A>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	9.802	1.180727	0.21787	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.18016	2.24;5.0	0.985	0.985	0.19779	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	L	0.31065	0.9	0.80722	D	1	P;D	0.71674	0.606;0.998	B;D	0.76071	0.312;0.987	T	0.04203	-1.0969	9	0.48119	T	0.1	.	5.7438	0.18108	1.0:0.0:0.0:0.0	.	105;233	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	S	233;105	ENSP00000376110:T233S;ENSP00000347691:T105S	ENSP00000347691:T105S	T	+	1	0	ZNF493	21397998	0.000000	0.05858	0.051000	0.19133	0.050000	0.14768	-0.258000	0.08733	0.338000	0.23692	0.332000	0.21555	ACT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		17	47	0	0	0	0	17	47				
ZNF99	7652	broad.mit.edu	37	19	22939994	22939994	+	IGR	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:22939994A>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.C779C|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTGCCACATTCTTCAC	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2335-2337)TGT>TGC		zinc finger protein 99							56.0	64.0	62.0					19																	22939994		2145	4273	6418	SO:0001628	intergenic_variant	7652							g.chr19:22939994A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939994A>G							p.C779C	NM_001080409	NP_001073878					6	2337	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2337T>C	CCDS59369.1																																																																																				0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	65	0	0	0	0	8	65				
CD22	933	broad.mit.edu	37	19	35832025	35832025	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:35832025C>T	ENST00000085219.5	+	7	1557	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	CD22_ENST00000536635.2_Silent_p.V409V|CD22_ENST00000594250.1_Silent_p.V320V|CD22_ENST00000419549.2_Silent_p.V325V|CD22_ENST00000544992.2_Silent_p.V497V|CD22_ENST00000270311.6_Silent_p.V377V|CD22_ENST00000341773.6_Silent_p.V320V	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	497	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTCCCCTGTCGCCCTGAATG	0.627																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(1489-1491)GTC>GTT		CD22 molecule precursor	OspA lipoprotein(DB00045)						76.0	69.0	71.0					19																	35832025		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832025C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1491C>T	19.37:g.35832025C>T						CD22_uc010xst.1_Silent_p.V325V|CD22_uc010edu.2_Silent_p.V409V|CD22_uc010edv.2_Silent_p.V497V|CD22_uc002nzb.3_Silent_p.V320V|CD22_uc010edx.2_RNA	p.V497V	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1568	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		497			Extracellular (Potential).|Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1491C>T	CCDS12457.1																																																																																				0.627	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		36	64	0	0	0	0	36	64				
NLRP8	126205	broad.mit.edu	37	19	56473581	56473581	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:56473581C>G	ENST00000291971.3	+	4	2262	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q731E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	731					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGGCACCCTCAGTGCAAACT	0.478																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2191-2193)CAG>GAG		NLR family, pyrin domain containing 8							93.0	82.0	86.0					19																	56473581		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56473581C>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2191C>G	19.37:g.56473581C>G	ENSP00000291971:p.Gln731Glu					NLRP8_uc010etg.2_Missense_Mutation_p.Q731E	p.Q731E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2262	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	731					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2191C>G	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	1.929	-0.446446	0.04604	.	.	ENSG00000179709	ENST00000291971	D	0.88124	-2.34	1.93	0.837	0.18896	.	.	.	.	.	T	0.74703	0.3751	N	0.25890	0.77	0.09310	N	1	P;B	0.37352	0.591;0.082	B;B	0.39119	0.291;0.127	T	0.62845	-0.6768	9	0.06757	T	0.87	.	6.2742	0.20971	0.0:0.6845:0.3155:0.0	.	731;731	Q86W28-2;Q86W28	.;NALP8_HUMAN	E	731	ENSP00000291971:Q731E	ENSP00000291971:Q731E	Q	+	1	0	NLRP8	61165393	0.003000	0.15002	0.001000	0.08648	0.522000	0.34438	0.540000	0.23191	0.358000	0.24211	0.508000	0.49915	CAG		0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		17	68	0	0	0	0	17	68				
ZIM3	114026	broad.mit.edu	37	19	57646638	57646638	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:57646638A>C	ENST00000269834.1	-	5	1452	c.1067T>G	c.(1066-1068)aTt>aGt	p.I356S	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	356					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTGTGAATTTTCTCATG	0.388																																						uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(1066-1068)ATT>AGT		zinc finger, imprinted 3							164.0	161.0	162.0					19																	57646638		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646638A>C	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1067T>G	19.37:g.57646638A>C	ENSP00000269834:p.Ile356Ser						p.I356S	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1453	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	356			C2H2-type 7.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1067T>G	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	5.367	0.253021	0.10185	.	.	ENSG00000141946	ENST00000269834	T	0.00659	5.94	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.41824	1.3	0.25939	N	0.982892	D	0.59357	0.985	D	0.71414	0.973	T	0.51044	-0.8755	9	0.56958	D	0.05	.	8.871	0.35316	1.0:0.0:0.0:0.0	.	356	Q96PE6	ZIM3_HUMAN	S	356	ENSP00000269834:I356S	ENSP00000269834:I356S	I	-	2	0	ZIM3	62338450	0.001000	0.12720	0.198000	0.23420	0.179000	0.23085	0.987000	0.29603	1.237000	0.43756	0.260000	0.18958	ATT		0.388	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			21	133	0	0	0	0	21	133				
SLC1A4	6509	broad.mit.edu	37	2	65245229	65245229	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:65245229G>A	ENST00000234256.3	+	6	1302	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	SLC1A4_ENST00000531327.1_Missense_Mutation_p.M55I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	353					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTCTATGATGAAGTGCATTG	0.517																																						uc010yqa.1		NA																	0				pancreas(1)	1						c.(1057-1059)ATG>ATA		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						124.0	117.0	120.0					2																	65245229		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245229G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1059G>A	2.37:g.65245229G>A	ENSP00000234256:p.Met353Ile					SLC1A4_uc010ypy.1_Missense_Mutation_p.M133I|SLC1A4_uc010ypz.1_Missense_Mutation_p.M55I|SLC1A4_uc010fcv.2_Missense_Mutation_p.M353I|SLC1A4_uc002sdh.2_Missense_Mutation_p.M133I	p.M353I	NM_003038	NP_003029	P43007	SATT_HUMAN			6	1381	+			353					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1059G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937816	0.34189	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.57907	0.37;0.37	5.92	-2.82	0.05787	.	0.254289	0.53938	N	0.000048	T	0.34424	0.0897	L	0.31845	0.965	0.46222	D	0.998932	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.005;0.009;0.007	T	0.03043	-1.1079	10	0.38643	T	0.18	-18.6185	9.0165	0.36173	0.0643:0.542:0.2519:0.1418	.	353;55;353	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	I	55;273;353	ENSP00000431942:M55I;ENSP00000234256:M353I	ENSP00000234256:M353I	M	+	3	0	SLC1A4	65098733	0.412000	0.25392	0.983000	0.44433	0.802000	0.45316	-0.271000	0.08572	-0.420000	0.07427	-0.314000	0.08810	ATG		0.517	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		36	88	0	0	0	0	36	88				
AFF3	3899	broad.mit.edu	37	2	100210748	100210748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:100210748C>A	ENST00000409236.2	-	13	1487	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.E484*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.E459*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.E484*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	459					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATGCCGGTTCAGCCTGAAAG	0.433																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1375-1377)GAA>TAA		AF4/FMR2 family, member 3 isoform 1							118.0	128.0	125.0					2																	100210748		2030	4209	6239	SO:0001587	stop_gained	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210748C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1375G>T	2.37:g.100210748C>A	ENSP00000387207:p.Glu459*					AFF3_uc002taf.2_Nonsense_Mutation_p.E484*|AFF3_uc010fiq.1_Nonsense_Mutation_p.E459*|AFF3_uc010yvr.1_Nonsense_Mutation_p.E612*|AFF3_uc002tah.1_Nonsense_Mutation_p.E484*	p.E459*	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	1611	-			459					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Nonsense_Mutation	SNP	ENST00000409236.2	37	c.1375G>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	39	7.602077	0.98384	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	5.87	5.87	0.94306	.	0.079854	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.8183	0.96579	0.0:1.0:0.0:0.0	.	.	.	.	X	459;484;484;459;459;612;484	.	ENSP00000317421:E459X	E	-	1	0	AFF3	99577180	1.000000	0.71417	0.994000	0.49952	0.723000	0.41478	7.003000	0.76310	2.781000	0.95711	0.655000	0.94253	GAA		0.433	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		33	186	1	0	8.53e-09	9.54e-09	33	186				
ACMSD	130013	broad.mit.edu	37	2	135621074	135621074	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:135621074A>G	ENST00000356140.5	+	5	495	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.Q62R|ACMSD_ENST00000392928.1_Missense_Mutation_p.Q62R	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	120					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCCATGCAGGCCCCTGAG	0.587																																						uc002ttz.2		NA																	0				skin(1)	1						c.(358-360)CAG>CGG		aminocarboxymuconate semialdehyde decarboxylase							76.0	66.0	69.0					2																	135621074		2203	4300	6503	SO:0001583	missense	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135621074A>G	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.359A>G	2.37:g.135621074A>G	ENSP00000348459:p.Gln120Arg					ACMSD_uc002tua.2_Missense_Mutation_p.Q62R	p.Q120R	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	5	426	+			120					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.359A>G	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088360	0.76756	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.92367	3.3	0.80722	D	1	P;P	0.45827	0.867;0.847	P;P	0.54889	0.763;0.647	D	0.85463	0.1168	9	0.44086	T	0.13	-12.4118	15.8291	0.78739	1.0:0.0:0.0:0.0	.	62;120	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	R	120;62;62	.	ENSP00000283054:Q62R	Q	+	2	0	ACMSD	135337544	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	9.332000	0.96446	2.141000	0.66446	0.459000	0.35465	CAG		0.587	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			3	73	0	0	0	0	3	73				
SCN1A	6323	broad.mit.edu	37	2	166897962	166897962	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:166897962G>T	ENST00000303395.4	-	13	2193	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	SCN1A_ENST00000409050.1_Missense_Mutation_p.Q704K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q721K|SCN1A_ENST00000423058.2_Missense_Mutation_p.Q732K|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	732					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCATTTCTGCCTGGATTCT	0.323																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2161-2163)CAG>AAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						69.0	78.0	75.0					2																	166897962		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897962G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2194C>A	2.37:g.166897962G>T	ENSP00000303540:p.Gln732Lys					SCN1A_uc002udo.3_Missense_Mutation_p.Q601K|SCN1A_uc010fpk.2_Missense_Mutation_p.Q573K	p.Q721K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			13	2179	-			732					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2161C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460871	0.84317	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96011	-3.88;-3.88;-3.84;-3.81	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	D	0.94538	0.8241	M	0.64170	1.965	0.54753	D	0.999986	B;B;B	0.28998	0.02;0.012;0.23	B;B;B	0.26864	0.015;0.012;0.074	D	0.92770	0.6231	10	0.72032	D	0.01	.	19.8328	0.96642	0.0:0.0:1.0:0.0	.	721;704;732	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	732;732;721;704	ENSP00000407030:Q732K;ENSP00000303540:Q732K;ENSP00000364554:Q721K;ENSP00000386312:Q704K	ENSP00000303540:Q732K	Q	-	1	0	SCN1A	166606208	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.719000	0.61937	2.758000	0.94735	0.591000	0.81541	CAG		0.323	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	56	1	0	1.37e-20	1.58e-20	32	56				
TTN	7273	broad.mit.edu	37	2	179582358	179582358	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:179582358C>T	ENST00000591111.1	-	85	24516	c.24292G>A	c.(24292-24294)Gca>Aca	p.A8098T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A7171T|TTN_ENST00000589042.1_Missense_Mutation_p.A8415T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12289	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGAGTTGCTACATTATGA	0.428																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21511-21513)GCA>ACA		titin isoform N2-A							71.0	72.0	71.0					2																	179582358		1881	4114	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582358C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24292G>A	2.37:g.179582358C>T	ENSP00000465570:p.Ala8098Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3832T	p.A7171T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	21735	-			8098					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21511G>A		.	.	.	.	.	.	.	.	.	.	C	13.53	2.264897	0.40095	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78078	0.4227	M	0.64997	1.995	0.80722	D	1	D	0.63046	0.992	P	0.57283	0.817	T	0.79697	-0.1695	9	0.87932	D	0	.	19.7837	0.96428	0.0:1.0:0.0:0.0	.	8098	Q8WZ42	TITIN_HUMAN	T	7171	ENSP00000343764:A7171T	ENSP00000343764:A7171T	A	-	1	0	TTN	179290603	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	5.618000	0.67722	2.738000	0.93877	0.655000	0.94253	GCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	21	0	0	0	0	4	21				
SPAG16	79582	broad.mit.edu	37	2	215274872	215274872	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:215274872T>C	ENST00000331683.5	+	16	1824	c.1729T>C	c.(1729-1731)Tta>Cta	p.L577L	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000312504.5_5'Flank|VWC2L_ENST00000427124.1_5'Flank|AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGTCGAGTTTTAGCTCAGGC	0.408																																						uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(1729-1731)TTA>CTA		sperm associated antigen 16 isoform 1							78.0	75.0	76.0					2																	215274872		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274872T>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1729T>C	2.37:g.215274872T>C						SPAG16_uc002ver.2_Silent_p.L523L|SPAG16_uc010zjk.1_Silent_p.L483L|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	p.L577L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1821	+		Renal(323;0.00461)	577			WD 6.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1729T>C	CCDS2396.1																																																																																				0.408	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		21	47	0	0	0	0	21	47				
DOCK10	55619	broad.mit.edu	37	2	225652094	225652094	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:225652094T>C	ENST00000258390.7	-	49	5506	c.5439A>G	c.(5437-5439)ctA>ctG	p.L1813L	DOCK10_ENST00000409592.3_Silent_p.L1807L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1813	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACATGTATAGCTGCTCCA	0.428																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(5437-5439)CTA>CTG		dedicator of cytokinesis 10							202.0	198.0	200.0					2																	225652094		1988	4172	6160	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225652094T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5439A>G	2.37:g.225652094T>C						DOCK10_uc002vob.2_Silent_p.L1807L|DOCK10_uc002voa.2_Silent_p.L469L|DOCK10_uc002voc.2_Silent_p.L634L	p.L1813L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	49	5678	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1813			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.5439A>G	CCDS46528.1																																																																																				0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			65	174	0	0	0	0	65	174				
TRIP12	9320	broad.mit.edu	37	2	230663654	230663654	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:230663654G>A	ENST00000283943.5	-	22	3372	c.3194C>T	c.(3193-3195)gCa>gTa	p.A1065V	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1113V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A795V|TRIP12_ENST00000543084.1_3'UTR	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1065					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGCAGTCCGTGCTGGCTCAAT	0.478																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3193-3195)GCA>GTA		thyroid hormone receptor interactor 12							140.0	132.0	135.0					2																	230663654		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663654G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3194C>T	2.37:g.230663654G>A	ENSP00000283943:p.Ala1065Val					TRIP12_uc002vpx.1_Missense_Mutation_p.A1113V|TRIP12_uc002vpy.1_Missense_Mutation_p.A795V|TRIP12_uc010zlz.1_RNA	p.A1065V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3303	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1065					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3194C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441623	0.83993	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.45668	0.89;0.89;0.89	5.76	5.76	0.90799	.	0.051541	0.85682	D	0.000000	T	0.28433	0.0703	N	0.08118	0	0.80722	D	1	B;P;P	0.34522	0.079;0.455;0.455	B;B;B	0.34824	0.048;0.19;0.19	T	0.08534	-1.0717	10	0.27785	T	0.31	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	795;1113;1065	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1065;795;1113	ENSP00000283943:A1065V;ENSP00000373697:A795V;ENSP00000373696:A1113V	ENSP00000283943:A1065V	A	-	2	0	TRIP12	230371898	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.434000	0.97515	2.713000	0.92767	0.655000	0.94253	GCA		0.478	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		19	52	0	0	0	0	19	52				
TMC2	117532	broad.mit.edu	37	20	2542577	2542577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:2542577C>T	ENST00000358864.1	+	4	490	c.475C>T	c.(475-477)Cag>Tag	p.Q159*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	159	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATCCTGGAGCAGGTGGAAGA	0.627																																						uc002wgf.1		NA																	0				ovary(3)	3						c.(475-477)CAG>TAG		transmembrane cochlear-expressed protein 2							71.0	66.0	68.0					20																	2542577		2203	4300	6503	SO:0001587	stop_gained	117532					integral to membrane		g.chr20:2542577C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.475C>T	20.37:g.2542577C>T	ENSP00000351732:p.Gln159*					TMC2_uc002wgg.1_Nonsense_Mutation_p.Q143*|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	p.Q159*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			4	490	+			159			Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	c.475C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963152	0.92791	.	.	ENSG00000149488	ENST00000358864	.	.	.	4.66	3.7	0.42460	.	0.569407	0.18293	N	0.145679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.7304	11.3712	0.49699	0.0:0.8158:0.1842:0.0	.	.	.	.	X	159	.	ENSP00000351732:Q159X	Q	+	1	0	TMC2	2490577	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.323000	0.43823	1.258000	0.44101	-0.302000	0.09304	CAG		0.627	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			13	70	0	0	0	0	13	70				
ATRN	8455	broad.mit.edu	37	20	3541513	3541513	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:3541513C>G	ENST00000262919.5	+	8	1476	c.1408C>G	c.(1408-1410)Ctc>Gtc	p.L470V	ATRN_ENST00000446916.2_Missense_Mutation_p.L470V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	470					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCACTGCCCTCTCTATGGATA	0.418																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(1408-1410)CTC>GTC		attractin isoform 1							237.0	205.0	216.0					20																	3541513		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3541513C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1408C>G	20.37:g.3541513C>G	ENSP00000262919:p.Leu470Val					ATRN_uc002wil.2_Missense_Mutation_p.L470V	p.L470V	NM_139321	NP_647537	O75882	ATRN_HUMAN			8	1498	+			470			Extracellular (Potential).|Kelch 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.1408C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719556	0.15372	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.73363	-0.74;3.47	4.99	4.99	0.66335	Kelch-type beta propeller (1);	0.219815	0.40064	N	0.001192	T	0.62514	0.2434	N	0.20986	0.625	0.48830	D	0.999715	B;B	0.26081	0.007;0.141	B;B	0.26202	0.009;0.067	T	0.57808	-0.7747	10	0.16896	T	0.51	-13.4487	18.0386	0.89312	0.0:1.0:0.0:0.0	.	470;470	O75882;O75882-2	ATRN_HUMAN;.	V	470;470;396	ENSP00000262919:L470V;ENSP00000416587:L470V	ENSP00000262919:L470V	L	+	1	0	ATRN	3489513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.923000	0.48868	2.574000	0.86865	0.650000	0.86243	CTC		0.418	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		5	66	0	0	0	0	5	66				
PLCB1	23236	broad.mit.edu	37	20	8352093	8352093	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:8352093C>G	ENST00000338037.6	+	3	269	c.242C>G	c.(241-243)cCc>cGc	p.P81R	PLCB1_ENST00000378641.3_Missense_Mutation_p.P81R|PLCB1_ENST00000378637.2_Missense_Mutation_p.P81R	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	81					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCAAAGCTCCCAAGGTAGGA	0.458																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(241-243)CCC>CGC		phosphoinositide-specific phospholipase C beta 1							160.0	129.0	140.0					20																	8352093		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8352093C>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.242C>G	20.37:g.8352093C>G	ENSP00000338185:p.Pro81Arg					PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.P81R|PLCB1_uc002wmz.1_Missense_Mutation_p.P81R|PLCB1_uc002wna.2_Missense_Mutation_p.P81R	p.P81R	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			3	245	+			81					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.242C>G	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114060	0.77210	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.52	5.52	0.82312	.	0.065001	0.64402	N	0.000010	T	0.74084	0.3670	M	0.89353	3.025	0.58432	D	0.999994	P;D;D	0.89917	0.546;1.0;1.0	B;D;D	0.91635	0.145;0.999;0.999	T	0.78375	-0.2228	10	0.66056	D	0.02	.	16.7267	0.85423	0.0:1.0:0.0:0.0	.	81;81;80	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	R	81;81;81;80	ENSP00000367908:P81R;ENSP00000338185:P81R;ENSP00000367904:P81R;ENSP00000384001:P80R	ENSP00000338185:P81R	P	+	2	0	PLCB1	8300093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.370000	0.59517	2.745000	0.94114	0.655000	0.94253	CCC		0.458	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			9	51	0	0	0	0	9	51				
KIF16B	55614	broad.mit.edu	37	20	16359581	16359581	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:16359581G>C	ENST00000354981.2	-	19	3223	c.3066C>G	c.(3064-3066)caC>caG	p.H1022Q	KIF16B_ENST00000378003.2_Missense_Mutation_p.H248Q|KIF16B_ENST00000355755.3_Missense_Mutation_p.H1022Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.H1022Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1022	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.H1022Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAGGGTGGAGTGCCTCTGCA	0.597																																						uc002wpg.1		NA																	1	Substitution - Missense(1)	p.H1022Q(1)	kidney(1)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3064-3066)CAC>CAG		kinesin-like motor protein C20orf23							80.0	82.0	81.0					20																	16359581		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359581G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3066C>G	20.37:g.16359581G>C	ENSP00000347076:p.His1022Gln					KIF16B_uc002wpe.1_Missense_Mutation_p.H404Q|KIF16B_uc002wpf.1_Missense_Mutation_p.H404Q|KIF16B_uc010gch.1_Missense_Mutation_p.H1022Q|KIF16B_uc010gci.1_Missense_Mutation_p.H1022Q|KIF16B_uc010gcj.1_Missense_Mutation_p.H1033Q	p.H1022Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	3224	-			1022			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3066C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	7.101	0.574154	0.13623	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.69306	-0.39;-0.39;2.55;-0.39	5.29	0.573	0.17363	.	0.389046	0.32218	N	0.006414	T	0.36082	0.0954	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27416	0.029;0.178;0.016;0.01	B;B;B;B	0.21360	0.015;0.034;0.015;0.005	T	0.05517	-1.0880	10	0.19590	T	0.45	.	1.0386	0.01554	0.3403:0.1463:0.3639:0.1495	.	1022;1022;1022;1022	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	1022;1022;866;248;1022	ENSP00000347076:H1022Q;ENSP00000347995:H1022Q;ENSP00000367242:H248Q;ENSP00000384164:H1022Q	ENSP00000347076:H1022Q	H	-	3	2	KIF16B	16307581	0.794000	0.28838	0.003000	0.11579	0.153000	0.21895	0.840000	0.27600	0.265000	0.21872	0.643000	0.83706	CAC		0.597	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	106	0	0	0	0	6	106				
RBM39	9584	broad.mit.edu	37	20	34317447	34317447	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:34317447G>A	ENST00000253363.6	-	5	322	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RBM39_ENST00000528062.3_Intron|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000361162.6_Missense_Mutation_p.S100F			Q14498	RBM39_HUMAN	RNA binding motif protein 39	100					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTTGGTCCGGAGCTAAAAAG	0.373																																						uc002xeb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(298-300)TCC>TTC		RNA binding motif protein 39 isoform a							89.0	84.0	86.0					20																	34317447		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34317447G>A	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.299C>T	20.37:g.34317447G>A	ENSP00000253363:p.Ser100Phe					RBM39_uc002xdz.2_Missense_Mutation_p.S76F|RBM39_uc002xea.2_5'UTR|RBM39_uc010gfn.2_5'UTR|RBM39_uc010zvm.1_Intron|RBM39_uc002xeg.2_Intron|RBM39_uc002xec.2_Missense_Mutation_p.S100F|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_5'UTR|RBM39_uc002xef.2_5'UTR|RBM39_uc010zvn.1_5'UTR	p.S100F	NM_184234	NP_909122	Q14498	RBM39_HUMAN			5	643	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		100					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.299C>T	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826153	0.50739	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000374038;ENST00000434927	T;T;T;T	0.44881	0.95;0.95;0.91;0.95	5.65	5.65	0.86999	.	0.228408	0.45126	D	0.000399	T	0.65984	0.2744	M	0.71581	2.175	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.99	D;D;D	0.74348	0.983;0.962;0.962	T	0.66089	-0.6010	10	0.56958	D	0.05	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	100;100;76	Q14498-2;Q14498;B3KWX7	.;RBM39_HUMAN;.	F	100	ENSP00000253363:S100F;ENSP00000354437:S100F;ENSP00000363150:S100F;ENSP00000393493:S100F	ENSP00000253363:S100F	S	-	2	0	RBM39	33780861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.842000	0.86851	2.665000	0.90641	0.591000	0.81541	TCC		0.373	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		4	53	0	0	0	0	4	53				
ADAMTS1	9510	broad.mit.edu	37	21	28216933	28216933	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:28216933G>A	ENST00000284984.3	-	1	795	c.341C>T	c.(340-342)cCg>cTg	p.P114L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	114					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTCCGGAAGCGGCGTCTCGGA	0.677											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(340-342)CCG>CTG		ADAM metallopeptidase with thrombospondin type 1							18.0	21.0	20.0					21																	28216933		2201	4300	6501	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28216933G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.341C>T	21.37:g.28216933G>A	ENSP00000284984:p.Pro114Leu		OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.P114L	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	1	796	-		Breast(209;0.000962)	114					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.341C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627478	0.14257	.	.	ENSG00000154734	ENST00000284984	T	0.05513	3.43	4.06	-4.49	0.03504	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02047	0.0064	N	0.02247	-0.625	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.46317	-0.9200	9	0.27785	T	0.31	.	4.9768	0.14144	0.3635:0.0:0.2763:0.3602	.	114	Q9UHI8	ATS1_HUMAN	L	114	ENSP00000284984:P114L	ENSP00000284984:P114L	P	-	2	0	ADAMTS1	27138804	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.845000	0.04340	-0.630000	0.05567	0.555000	0.69702	CCG		0.677	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			4	16	0	0	0	0	4	16				
KRTAP10-11	386678	broad.mit.edu	37	21	46066855	46066855	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:46066855C>T	ENST00000334670.8	+	1	525	c.480C>T	c.(478-480)acC>acT	p.T160T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	160	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTGTGTCCACCTGCTCTGAGG	0.637																																						uc002zfr.3		NA																	0				ovary(1)	1						c.(478-480)ACC>ACT		keratin associated protein 10-11							162.0	163.0	163.0					21																	46066855		2203	4300	6503	SO:0001819	synonymous_variant	386678					keratin filament		g.chr21:46066855C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.480C>T	21.37:g.46066855C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T160T	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	525	+			160			25 X 5 AA repeats of C-C-X(3).|15.		A2RRF9	Silent	SNP	ENST00000334670.8	37	c.480C>T	CCDS42962.1																																																																																				0.637	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		86	157	0	0	0	0	86	157				
EFCAB6	64800	broad.mit.edu	37	22	43926760	43926760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr22:43926760G>A	ENST00000262726.7	-	31	4571	c.4318C>T	c.(4318-4320)Cgg>Tgg	p.R1440W	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1288W|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1440	EF-hand 16. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACGTGCGCCGCATTGGCCTC	0.562																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(4318-4320)CGG>TGG		CAP-binding protein complex interacting protein							80.0	72.0	75.0					22																	43926760		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43926760G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4318C>T	22.37:g.43926760G>A	ENSP00000262726:p.Arg1440Trp					EFCAB6_uc003bdz.1_Missense_Mutation_p.R1288W|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1288W	p.R1440W	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			31	4533	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1440			Interaction with AR.|EF-hand 16.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4318C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387533	0.61956	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.73681	-0.77;-0.77	4.56	2.38	0.29361	EF-hand-like domain (1);	0.065997	0.56097	D	0.000035	D	0.83977	0.5371	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83198	-0.0080	10	0.52906	T	0.07	-14.547	11.1362	0.48375	0.0:0.0:0.4284:0.5716	.	1440	Q5THR3	EFCB6_HUMAN	W	1288;1440	ENSP00000379533:R1288W;ENSP00000262726:R1440W	ENSP00000262726:R1440W	R	-	1	2	EFCAB6	42258093	0.993000	0.37304	0.951000	0.38953	0.757000	0.42996	0.851000	0.27751	0.495000	0.27882	0.655000	0.94253	CGG		0.562	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		4	108	0	0	0	0	4	108				
PPP6R2	9701	broad.mit.edu	37	22	50862016	50862016	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr22:50862016C>T	ENST00000216061.5	+	11	1468	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	PPP6R2_ENST00000395741.3_Silent_p.C367C|PPP6R2_ENST00000359139.3_Silent_p.C366C|PPP6R2_ENST00000395744.3_Silent_p.C366C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	366						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGGAGCTCTGCCGGCTCAACA	0.627																																						uc003blb.1		NA																	0					0						c.(1096-1098)TGC>TGT		SAPS domain family, member 2							93.0	71.0	79.0					22																	50862016		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50862016C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1098C>T	22.37:g.50862016C>T						SAPS2_uc003bky.1_Silent_p.C366C|SAPS2_uc003bkz.1_Silent_p.C366C|SAPS2_uc003blc.2_Silent_p.C366C|SAPS2_uc003bla.1_Silent_p.C367C|uc011arw.1_5'Flank	p.C366C	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	11	1520	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	366					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.1098C>T																																																																																					0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		6	49	0	0	0	0	6	49				
HACL1	26061	broad.mit.edu	37	3	15609397	15609397	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:15609397C>T	ENST00000321169.5	-	14	1730	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N	HACL1_ENST00000451445.2_Missense_Mutation_p.D373N|HACL1_ENST00000435217.2_Missense_Mutation_p.D214N|HACL1_ENST00000456194.2_Missense_Mutation_p.D428N|HACL1_ENST00000457447.2_Missense_Mutation_p.D395N	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	455	Thiamine pyrophosphate binding.				cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						AATGCACTGTCTCCTTCCACA	0.443																																						uc003caf.2		NA																	0					0						c.(1363-1365)GAC>AAC		2-hydroxyphytanoyl-CoA lyase							212.0	218.0	216.0					3																	15609397		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15609397C>T	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1363G>A	3.37:g.15609397C>T	ENSP00000323811:p.Asp455Asn					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.D428N|HACL1_uc011avt.1_Missense_Mutation_p.D395N|HACL1_uc003cag.2_Missense_Mutation_p.D99N|HACL1_uc011avu.1_Missense_Mutation_p.D373N|HACL1_uc010hep.2_Missense_Mutation_p.D214N	p.D455N	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			14	1523	-			455			Thiamine pyrophosphate binding.	Magnesium (By similarity).	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.1363G>A	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251433	0.95305	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194;ENST00000457447	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.72	4.84	0.62591	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.127549	0.64402	D	0.000001	D	0.94988	0.8378	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.981;0.998;0.998;0.999;0.997	D	0.97140	0.9824	10	0.87932	D	0	.	16.0574	0.80816	0.1353:0.8647:0.0:0.0	.	373;395;428;214;455	B4DXI5;E9PEN4;B4DWI1;B3KPX4;Q9UJ83	.;.;.;.;HACL1_HUMAN	N	455;214;373;428;395	ENSP00000323811:D455N;ENSP00000395278:D214N;ENSP00000403656:D373N;ENSP00000390699:D428N;ENSP00000404883:D395N	ENSP00000323811:D455N	D	-	1	0	HACL1	15584401	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.717000	0.61923	1.400000	0.46741	0.561000	0.74099	GAC		0.443	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		19	210	0	0	0	0	19	210				
CELSR3	1951	broad.mit.edu	37	3	48691215	48691215	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48691215G>A	ENST00000164024.4	-	9	5565	c.5285C>T	c.(5284-5286)gCc>gTc	p.A1762V	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1762V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1762					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGGGATGGGCCATAGCTGA	0.577																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(5284-5286)GCC>GTC		cadherin EGF LAG seven-pass G-type receptor 3							89.0	95.0	93.0					3																	48691215		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48691215G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5285C>T	3.37:g.48691215G>A	ENSP00000164024:p.Ala1762Val					CELSR3_uc003cuf.1_Missense_Mutation_p.A1832V|CELSR3_uc010hkg.2_5'Flank	p.A1762V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	5566	-			1762			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5285C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299463	0.40694	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	5.34	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.45518	0.1346	N	0.08118	0	0.28364	N	0.92031	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.20940	-1.0260	9	0.30078	T	0.28	.	4.5484	0.12092	0.0835:0.1116:0.5524:0.2525	.	1762;1832	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	V	1762	ENSP00000164024:A1762V;ENSP00000445694:A1762V	ENSP00000164024:A1762V	A	-	2	0	CELSR3	48666219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.106000	0.31098	2.496000	0.84212	0.655000	0.94253	GCC		0.577	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	71	0	0	0	0	4	71				
NCKIPSD	51517	broad.mit.edu	37	3	48719836	48719836	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48719836C>T	ENST00000294129.2	-	3	550	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R144Q|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R144Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	144					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGTGCTGCCGCTCGAACCC	0.597																																						uc003cun.2		NA																	0					0						c.(430-432)CGG>CAG		NCK interacting protein with SH3 domain isoform							109.0	112.0	111.0					3																	48719836		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719836C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.431G>A	3.37:g.48719836C>T	ENSP00000294129:p.Arg144Gln					NCKIPSD_uc003cum.2_Missense_Mutation_p.R144Q|NCKIPSD_uc010hkh.1_Missense_Mutation_p.R144Q	p.R144Q	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	525	-			144					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.431G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396393	0.83011	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.68624	-0.34;0.28;0.27;0.16	4.47	3.59	0.41128	.	0.000000	0.64402	U	0.000020	T	0.72574	0.3477	M	0.64997	1.995	0.51767	D	0.999934	D;D;D	0.76494	0.999;0.989;0.994	P;P;P	0.59546	0.859;0.627;0.794	T	0.68584	-0.5370	10	0.15952	T	0.53	.	12.2615	0.54652	0.0:0.9169:0.0:0.0831	.	144;144;144	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Q	144;144;144;144;66;28	ENSP00000342621:R144Q;ENSP00000389059:R144Q;ENSP00000294129:R144Q;ENSP00000409675:R144Q	ENSP00000294129:R144Q	R	-	2	0	NCKIPSD	48694840	1.000000	0.71417	0.971000	0.41717	0.952000	0.60782	7.245000	0.78237	0.857000	0.35407	0.655000	0.94253	CGG		0.597	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		14	133	0	0	0	0	14	133				
CACNA2D3	55799	broad.mit.edu	37	3	54913049	54913049	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:54913049G>C	ENST00000474759.1	+	19	1763	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R572T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R478T|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R572T|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	572						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTTTAGTTGAGAAATGCTATG	0.408																																						uc003dhf.2		NA																	0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1714-1716)AGA>ACA		calcium channel, voltage-dependent, alpha							77.0	81.0	80.0					3																	54913049		1885	4124	6009	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54913049G>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1715G>C	3.37:g.54913049G>C	ENSP00000419101:p.Arg572Thr					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R478T|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R306T|uc003dhk.1_Intron	p.R572T	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	19	1763	+			572			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1715G>C	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034236	0.75617	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.16196	2.36;2.36;2.36;2.38	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.92268	3.29	0.53688	D	0.999978	D	0.89917	1.0	D	0.79784	0.993	T	0.62623	-0.6815	10	0.87932	D	0	-0.3292	19.0403	0.92995	0.0:0.0:1.0:0.0	.	572	Q8IZS8	CA2D3_HUMAN	T	572;572;572;478;478;471	ENSP00000389506:R572T;ENSP00000419101:R572T;ENSP00000288197:R572T;ENSP00000417279:R478T	ENSP00000288197:R572T	R	+	2	0	CACNA2D3	54888089	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	9.206000	0.95056	2.937000	0.99478	0.650000	0.86243	AGA		0.408	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			3	26	0	0	0	0	3	26				
CADM2	253559	broad.mit.edu	37	3	85961658	85961658	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:85961658C>G	ENST00000407528.2	+	5	700	c.638C>G	c.(637-639)aCc>aGc	p.T213S	CADM2_ENST00000383699.3_Missense_Mutation_p.T222S|CADM2_ENST00000405615.2_Missense_Mutation_p.T215S	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	213	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTCAATGCCACCCCTCAGGTA	0.488																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(637-639)ACC>AGC		immunoglobulin superfamily, member 4D							112.0	93.0	100.0					3																	85961658		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961658C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.638C>G	3.37:g.85961658C>G	ENSP00000384575:p.Thr213Ser					CADM2_uc003dqk.2_Missense_Mutation_p.T222S|CADM2_uc003dql.2_Missense_Mutation_p.T215S	p.T213S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1264	+		Lung NSC(201;0.0148)	213			Ig-like C2-type 1.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.638C>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	8.731	0.916587	0.17907	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.86164	-2.08;-2.08;-2.08	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095582	0.64402	D	0.000001	D	0.82893	0.5136	L	0.36672	1.1	0.42899	D	0.994225	B;B;B	0.17667	0.001;0.023;0.011	B;B;B	0.12837	0.006;0.007;0.008	T	0.77021	-0.2742	10	0.26408	T	0.33	.	19.3937	0.94596	0.0:1.0:0.0:0.0	.	215;222;213	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	S	222;213;215	ENSP00000373200:T222S;ENSP00000384575:T213S;ENSP00000384193:T215S	ENSP00000373200:T222S	T	+	2	0	CADM2	86044348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.583000	0.67484	2.583000	0.87209	0.591000	0.81541	ACC		0.488	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		13	30	0	0	0	0	13	30				
KALRN	8997	broad.mit.edu	37	3	124415027	124415027	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:124415027G>C	ENST00000291478.5	+	21	2696	c.2533G>C	c.(2533-2535)Gac>Cac	p.D845H	KALRN_ENST00000360013.3_Missense_Mutation_p.D2542H|KALRN_ENST00000428018.2_Missense_Mutation_p.D813H|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2541					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATGCCCCAAGACAGTGGGAT	0.463																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7624-7626)GAC>CAC		kalirin, RhoGEF kinase isoform 1							159.0	152.0	155.0					3																	124415027		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124415027G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2533G>C	3.37:g.124415027G>C	ENSP00000291478:p.Asp845His					KALRN_uc003ehk.2_Missense_Mutation_p.D845H	p.D2542H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			54	7751	+			2541			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.7624G>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704644|4.704644	0.88924|0.88924	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	D;D;D|.	0.81821|.	-1.54;-1.54;-1.54|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78660|0.78660	0.4318|0.4318	M|M	0.79475|0.79475	2.455|2.455	0.50632|0.50632	D|D	0.999884|0.999884	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.78221|0.78221	-0.2288|-0.2288	10|5	0.38643|.	T|.	0.18|.	.|.	19.6517|19.6517	0.95819|0.95819	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	845;2541|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	H|N	2542;845;813|2510	ENSP00000353109:D2542H;ENSP00000291478:D845H;ENSP00000402419:D813H|.	ENSP00000291478:D845H|.	D|K	+|+	1|3	0|2	KALRN|KALRN	125897717|125897717	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.942000|0.942000	0.58702|0.58702	9.147000|9.147000	0.94646|0.94646	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.463	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		23	154	0	0	0	0	23	154				
GATA2	2624	broad.mit.edu	37	3	128199926	128199926	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:128199926T>G	ENST00000341105.2	-	6	1710	c.1379A>C	c.(1378-1380)cAc>cCc	p.H460P	GATA2_ENST00000487848.1_Missense_Mutation_p.H460P|GATA2_ENST00000430265.2_Missense_Mutation_p.H446P|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	460					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H460P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGAGGAGGGGTGGATGGGCGT	0.687			Mis		AML(CML blast transformation)																																	uc003ekm.3		NA		Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - Missense(1)		kidney(1)	haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(1378-1380)CAC>CCC		GATA binding protein 2 isoform 1							56.0	54.0	55.0					3																	128199926		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128199926T>G	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1379A>C	3.37:g.128199926T>G	ENSP00000345681:p.His460Pro					GATA2_uc003ekn.3_Missense_Mutation_p.H446P|GATA2_uc003eko.2_Missense_Mutation_p.H460P	p.H460P	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	7	1814	-			460					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1379A>C	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990895	0.54041	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97598	-4.45;-4.45;-4.45	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.986	D	0.98871	1.0766	10	0.72032	D	0.01	-21.3494	14.5922	0.68373	0.0:0.0:0.0:1.0	.	446;460	P23769-2;P23769	.;GATA2_HUMAN	P	460;446;460	ENSP00000345681:H460P;ENSP00000400259:H446P;ENSP00000417074:H460P	ENSP00000345681:H460P	H	-	2	0	GATA2	129682616	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	6.192000	0.72069	1.909000	0.55274	0.402000	0.26972	CAC		0.687	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		8	56	0	0	0	0	8	56				
GK5	256356	broad.mit.edu	37	3	141884493	141884493	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:141884493G>A	ENST00000392993.2	-	16	1712	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	521					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTCATGGAGCGTTTCACTGCT	0.393																																						uc003euq.1		NA																	0					0						c.(1561-1563)CGC>TGC		glycerol kinase 5 (putative)							218.0	199.0	205.0					3																	141884493		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141884493G>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1561C>T	3.37:g.141884493G>A	ENSP00000418001:p.Arg521Cys					GK5_uc003eup.1_Missense_Mutation_p.R242C|GK5_uc010hus.1_RNA	p.R521C	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN			16	1692	-			521					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.1561C>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493597	0.84962	.	.	ENSG00000175066	ENST00000392993	D	0.91407	-2.84	5.98	5.11	0.69529	.	0.049681	0.85682	D	0.000000	D	0.93216	0.7839	M	0.84948	2.725	0.80722	D	1	D	0.59767	0.986	P	0.50537	0.643	D	0.93320	0.6692	10	0.49607	T	0.09	-12.3259	14.3523	0.66711	0.0723:0.0:0.9277:0.0	.	521	Q6ZS86	GLPK5_HUMAN	C	521	ENSP00000418001:R521C	ENSP00000418001:R521C	R	-	1	0	GK5	143367183	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	6.503000	0.73699	1.537000	0.49254	0.591000	0.81541	CGC		0.393	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		19	146	0	0	0	0	19	146				
KCNAB1	7881	broad.mit.edu	37	3	155838565	155838565	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:155838565C>G	ENST00000490337.1	+	1	229	c.165C>G	c.(163-165)ctC>ctG	p.L55L	KCNAB1_ENST00000389636.5_Silent_p.L55L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	55					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGCCAGCTCAGGGCGCGTC	0.557																																						uc003far.2		NA																	0				ovary(3)|skin(1)	4						c.(163-165)CTC>CTG		potassium voltage-gated channel, shaker-related							62.0	61.0	61.0					3																	155838565		2203	4300	6503	SO:0001819	synonymous_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155838565C>G	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.165C>G	3.37:g.155838565C>G						KCNAB1_uc011bon.1_Silent_p.L55L	p.L55L	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	229	+			55					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.165C>G	CCDS3174.1																																																																																				0.557	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		10	61	0	0	0	0	10	61				
SPATA16	83893	broad.mit.edu	37	3	172643242	172643242	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:172643242C>A	ENST00000351008.3	-	7	1305	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAAAAGATGACCAGTCAACTG	0.368																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1120-1122)TGG>TGT		spermatogenesis associated 16							90.0	88.0	89.0					3																	172643242		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172643242C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1122G>T	3.37:g.172643242C>A	ENSP00000341765:p.Trp374Cys						p.W374C	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		7	1280	-	Ovarian(172;0.00319)|Breast(254;0.197)		374					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1122G>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064352	0.55432	.	.	ENSG00000144962	ENST00000351008	T	0.27557	1.66	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000006	T	0.46210	0.1381	L	0.32530	0.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.44452	-0.9327	10	0.72032	D	0.01	-6.1446	16.7731	0.85544	0.0:1.0:0.0:0.0	.	374	Q9BXB7	SPT16_HUMAN	C	374	ENSP00000341765:W374C	ENSP00000341765:W374C	W	-	3	0	SPATA16	174125936	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.217000	0.51184	2.534000	0.85438	0.462000	0.41574	TGG		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		16	68	1	0	5.35e-07	5.93e-07	16	68				
ZNF721	170960	broad.mit.edu	37	4	436363	436363	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:436363C>T	ENST00000338977.5	-	2	1905	c.1857G>A	c.(1855-1857)caG>caA	p.Q619Q	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.Q631Q|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAATTTTCTTCTGTTGATTCA	0.403																																						uc003gag.2		NA																	0				ovary(1)	1						c.(1891-1893)CAG>CAA		zinc finger protein 721							200.0	211.0	207.0					4																	436363		2006	4190	6196	SO:0001819	synonymous_variant	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436363C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1857G>A	4.37:g.436363C>T						ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.Q663Q|ZNF721_uc010ibe.2_Silent_p.Q619Q	p.Q631Q	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2584	-			631					Q69YG7	Silent	SNP	ENST00000338977.5	37	c.1893G>A																																																																																					0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		29	285	0	0	0	0	29	285				
TADA2B	93624	broad.mit.edu	37	4	7056454	7056454	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000512388.1_Silent_p.R237R|TADA2B_ENST00000515646.1_Silent_p.R220R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557																																						uc003gjw.3		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(934-936)CGG>CGA		transcriptional adaptor 2 (ADA2 homolog,							57.0	67.0	63.0					4																	7056454		2035	4181	6216	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056454G>A	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.936G>A	4.37:g.7056454G>A						TADA2B_uc010idi.2_Silent_p.R237R	p.R312R	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	1087	+			312					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.936G>A	CCDS47007.1																																																																																				0.557	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		3	44	0	0	0	0	3	44				
SLIT2	9353	broad.mit.edu	37	4	20482374	20482374	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:20482374A>T	ENST00000504154.1	+	6	755	c.503A>T	c.(502-504)gAt>gTt	p.D168V	SLIT2_ENST00000273739.5_Missense_Mutation_p.D168V|SLIT2_ENST00000503837.1_Missense_Mutation_p.D168V|SLIT2_ENST00000503823.1_Missense_Mutation_p.D168V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	168					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATTGAAGATGGGGCATTC	0.458																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(502-504)GAT>GTT		slit homolog 2 precursor							160.0	154.0	156.0					4																	20482374		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20482374A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.503A>T	4.37:g.20482374A>T	ENSP00000422591:p.Asp168Val					SLIT2_uc003gps.1_Missense_Mutation_p.D168V	p.D168V	NM_004787	NP_004778	O94813	SLIT2_HUMAN			6	707	+			168			LRR 5.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.503A>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271930	0.80469	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83506	0.26;0.26;0.26;0.26;-1.73	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	L	0.39147	1.195	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.984;0.985	D	0.88462	0.3056	10	0.62326	D	0.03	.	16.0499	0.80749	1.0:0.0:0.0:0.0	.	168;168	O94813-3;O94813	.;SLIT2_HUMAN	V	168;168;168;168;168;129	ENSP00000427548:D168V;ENSP00000422591:D168V;ENSP00000273739:D168V;ENSP00000422261:D168V;ENSP00000426356:D129V	ENSP00000273739:D168V	D	+	2	0	SLIT2	20091472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.108000	0.94275	2.193000	0.70182	0.533000	0.62120	GAT		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			15	70	0	0	0	0	15	70				
BEND4	389206	broad.mit.edu	37	4	42145927	42145927	+	Missense_Mutation	SNP	G	G	T	rs376572055		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:42145927G>T	ENST00000502486.1	-	3	1151	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	BEND4_ENST00000504360.1_Missense_Mutation_p.S187Y	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	191										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAATGGTTGGAGTCCAGGAG	0.468																																						uc003gwn.2		NA																	0					0						c.(571-573)TCC>TAC		BEN domain containing 4 isoform a							57.0	54.0	55.0					4																	42145927		1927	4136	6063	SO:0001583	missense	389206							g.chr4:42145927G>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.572C>A	4.37:g.42145927G>T	ENSP00000421169:p.Ser191Tyr					BEND4_uc003gwm.2_Missense_Mutation_p.S191Y|BEND4_uc011byy.1_Missense_Mutation_p.S191Y	p.S191Y	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1152	-			191					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.572C>A	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889252	0.72524	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.72	5.72	0.89469	.	0.125589	0.53938	D	0.000046	T	0.62768	0.2455	L	0.29908	0.895	0.58432	D	0.99999	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.61132	0.884;0.768;0.884	T	0.65134	-0.6242	9	0.72032	D	0.01	-9.7594	14.5945	0.68395	0.0:0.0:0.8193:0.1807	.	113;191;191	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	Y	62;191;187	.	ENSP00000412495:S62Y	S	-	2	0	BEND4	41840684	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	5.034000	0.64152	2.717000	0.92951	0.655000	0.94253	TCC		0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		3	17	1	0	0.004672	0.00484775	3	17				
WDFY3	23001	broad.mit.edu	37	4	85748035	85748035	+	Silent	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:85748035T>A	ENST00000295888.4	-	10	1463	c.1056A>T	c.(1054-1056)ccA>ccT	p.P352P	WDFY3_ENST00000322366.6_Silent_p.P352P	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	352					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAATACCAGCTGGTTTTAGTT	0.438																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1054-1056)CCA>CCT		WD repeat and FYVE domain containing 3 isoform							122.0	112.0	115.0					4																	85748035		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85748035T>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1056A>T	4.37:g.85748035T>A						WDFY3_uc003hpf.2_Silent_p.P352P	p.P352P	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	10	1464	-		Hepatocellular(203;0.114)	352					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.1056A>T	CCDS3609.1																																																																																				0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	50	0	0	0	0	7	50				
DKK2	27123	broad.mit.edu	37	4	107847051	107847051	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:107847051G>A	ENST00000285311.3	-	2	983	c.278C>T	c.(277-279)cCc>cTc	p.P93L	DKK2_ENST00000510463.1_Missense_Mutation_p.P47L|DKK2_ENST00000513208.1_5'UTR	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	93	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCCTTGGTGGGGACTGTGGCA	0.512																																						uc003hyi.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(277-279)CCC>CTC		dickkopf homolog 2 precursor							178.0	152.0	161.0					4																	107847051		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107847051G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.278C>T	4.37:g.107847051G>A	ENSP00000285311:p.Pro93Leu					DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.P93L	p.P93L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	2	983	-		Hepatocellular(203;0.217)	93			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.278C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417909	0.96092	.	.	ENSG00000155011	ENST00000285311;ENST00000510463	T;T	0.46819	0.86;0.91	5.62	5.62	0.85841	Dickkopf, N-terminal cysteine-rich (1);	0.055262	0.85682	D	0.000000	T	0.66858	0.2832	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60845	-0.7182	10	0.34782	T	0.22	-16.6908	20.0185	0.97487	0.0:0.0:1.0:0.0	.	93;93	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	L	93;47	ENSP00000285311:P93L;ENSP00000423797:P47L	ENSP00000285311:P93L	P	-	2	0	DKK2	108066500	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	CCC		0.512	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			3	88	0	0	0	0	3	88				
NDST4	64579	broad.mit.edu	37	4	115773929	115773929	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:115773929T>G	ENST00000264363.2	-	8	2446	c.1768A>C	c.(1768-1770)Act>Cct	p.T590P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	590	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGTCACAAGTTTTCTCTCTG	0.348																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1768-1770)ACT>CCT		heparan sulfate N-deacetylase/N-sulfotransferase							139.0	136.0	137.0					4																	115773929		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115773929T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1768A>C	4.37:g.115773929T>G	ENSP00000264363:p.Thr590Pro					NDST4_uc010imw.2_RNA	p.T590P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	8	2447	-		Ovarian(17;0.156)	590			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1768A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248251	0.59103	.	.	ENSG00000138653	ENST00000264363	T	0.55760	0.5	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.75777	2.31	0.80722	D	1	P	0.36315	0.547	B	0.43386	0.418	T	0.65825	-0.6074	10	0.59425	D	0.04	.	15.7449	0.77932	0.0:0.0:0.0:1.0	.	590	Q9H3R1	NDST4_HUMAN	P	590	ENSP00000264363:T590P	ENSP00000264363:T590P	T	-	1	0	NDST4	115993378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.687000	0.84139	2.114000	0.64651	0.533000	0.62120	ACT		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		9	28	0	0	0	0	9	28				
USP53	54532	broad.mit.edu	37	4	120213687	120213687	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:120213687C>G	ENST00000274030.6	+	19	3722	c.2543C>G	c.(2542-2544)tCt>tGt	p.S848C	USP53_ENST00000450251.1_Missense_Mutation_p.S848C	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTTGATAACTCTGCTTCTGGG	0.393																																						uc003ics.3		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(2542-2544)TCT>TGT		ubiquitin specific protease 53							92.0	83.0	86.0					4																	120213687		1856	4094	5950	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213687C>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2543C>G	4.37:g.120213687C>G	ENSP00000274030:p.Ser848Cys					USP53_uc003icr.3_Missense_Mutation_p.S848C|USP53_uc003icu.3_Missense_Mutation_p.S471C	p.S848C	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			18	3609	+			848						Missense_Mutation	SNP	ENST00000274030.6	37	c.2543C>G	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144987	0.57044	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.52057	0.68;0.68	5.73	3.92	0.45320	.	0.481243	0.21402	N	0.075133	T	0.59689	0.2212	M	0.61703	1.905	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.49707	-0.8911	10	0.59425	D	0.04	-9.2908	9.6933	0.40143	0.0:0.784:0.1413:0.0747	.	848	Q70EK8	UBP53_HUMAN	C	848	ENSP00000274030:S848C;ENSP00000409906:S848C	ENSP00000274030:S848C	S	+	2	0	USP53	120433135	0.016000	0.18221	0.982000	0.44146	0.957000	0.61999	0.750000	0.26334	2.704000	0.92352	0.585000	0.79938	TCT		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		6	43	0	0	0	0	6	43				
CCNA2	890	broad.mit.edu	37	4	122742139	122742139	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:122742139T>G	ENST00000274026.5	-	3	868	c.565A>C	c.(565-567)Atg>Ctg	p.M189L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	189					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTTACCTCCATTTCCCTAAGG	0.313																																						uc003iec.3		NA																	0				ovary(1)	1						c.(565-567)ATG>CTG		cyclin A							186.0	176.0	179.0					4																	122742139		2203	4299	6502	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122742139T>G		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.565A>C	4.37:g.122742139T>G	ENSP00000274026:p.Met189Leu						p.M189L	NM_001237	NP_001228	P20248	CCNA2_HUMAN			3	870	-			189					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.565A>C	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841094	0.51057	.	.	ENSG00000145386	ENST00000274026	T	0.10288	2.89	5.9	4.72	0.59763	Cyclin, N-terminal (1);Cyclin-like (1);	0.040616	0.85682	D	0.000000	T	0.03011	0.0089	N	0.00771	-1.2	0.36093	D	0.843568	B	0.14438	0.01	B	0.24541	0.054	T	0.31971	-0.9924	10	0.02654	T	1	.	10.3736	0.44068	0.0:0.0736:0.0:0.9264	.	189	P20248	CCNA2_HUMAN	L	189	ENSP00000274026:M189L	ENSP00000274026:M189L	M	-	1	0	CCNA2	122961589	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.746000	0.55127	1.063000	0.40649	0.482000	0.46254	ATG		0.313	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		9	77	0	0	0	0	9	77				
MYO10	4651	broad.mit.edu	37	5	16761646	16761646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:16761646C>T	ENST00000513610.1	-	17	2120	c.1666G>A	c.(1666-1668)Gat>Aat	p.D556N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	556	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTCGGACATCATATTGCACC	0.383																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1666-1668)GAT>AAT		myosin X							91.0	88.0	89.0					5																	16761646		1839	4095	5934	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16761646C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1666G>A	5.37:g.16761646C>T	ENSP00000421280:p.Asp556Asn					MYO10_uc010itx.2_Missense_Mutation_p.D179N	p.D556N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			17	2134	-			556			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1666G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375728	0.82682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.71579	-0.58;-0.58	5.82	5.82	0.92795	Myosin head, motor domain (2);	.	.	.	.	T	0.76976	0.4063	N	0.25201	0.72	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.91635	0.999;0.762	T	0.76446	-0.2956	9	0.42905	T	0.14	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	197;556	Q69YP8;Q9HD67	.;MYO10_HUMAN	N	556;567	ENSP00000421280:D556N;ENSP00000421309:D567N	ENSP00000421280:D556N	D	-	1	0	MYO10	16814646	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.763000	0.85283	2.765000	0.95021	0.650000	0.86243	GAT		0.383	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		18	107	0	0	0	0	18	107				
EGFLAM	133584	broad.mit.edu	37	5	38464020	38464020	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:38464020G>C	ENST00000354891.3	+	23	3332	c.2986G>C	c.(2986-2988)Gat>Cat	p.D996H	EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131H|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354H|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D988H|CTD-2263F21.1_ENST00000510137.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTGTCCACCGATTACCACAT	0.512																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2986-2988)GAT>CAT		EGF-like, fibronectin type III and laminin G							155.0	118.0	131.0					5																	38464020		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464020G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2986G>C	5.37:g.38464020G>C	ENSP00000346964:p.Asp996His					EGFLAM_uc003jlb.1_Missense_Mutation_p.D988H|EGFLAM_uc003jle.1_Missense_Mutation_p.D754H|EGFLAM_uc003jlf.1_Missense_Mutation_p.D354H|EGFLAM_uc003jlg.1_Missense_Mutation_p.D131H|EGFLAM_uc003jlh.1_Missense_Mutation_p.D78H	p.D996H	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			23	3310	+	all_lung(31;0.000385)		996			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2986G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520364	0.85495	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.84070	0.71;0.56;-1.38;-1.8;-0.13;-0.13;-0.13	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.995	D	0.90681	0.4605	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	354;754;996;988	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	H	996;988;754;354;754;131;131;131	ENSP00000346964:D996H;ENSP00000313084:D988H;ENSP00000337607:D754H;ENSP00000380385:D354H;ENSP00000380393:D131H;ENSP00000425579:D131H;ENSP00000423228:D131H	ENSP00000313084:D988H	D	+	1	0	EGFLAM	38499777	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.171000	0.94802	2.826000	0.97356	0.655000	0.94253	GAT		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		11	54	0	0	0	0	11	54				
FBXO4	26272	broad.mit.edu	37	5	41929884	41929884	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:41929884C>T	ENST00000281623.3	+	3	567	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	FBXO4_ENST00000296812.2_Silent_p.L171L|FBXO4_ENST00000509134.1_Silent_p.L171L	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	171					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.L171M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTACACTCCCTGATCATTCA	0.403																																						uc003jmq.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(511-513)CTG>TTG		F-box only protein 4 isoform 1							231.0	210.0	217.0					5																	41929884		2203	4300	6503	SO:0001819	synonymous_variant	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41929884C>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.511C>T	5.37:g.41929884C>T						FBXO4_uc003jmp.2_Silent_p.L171L|FBXO4_uc003jmr.2_Silent_p.L171L	p.L171L	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			3	567	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	171					Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	c.511C>T	CCDS3938.1																																																																																				0.403	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			15	100	0	0	0	0	15	100				
DDX46	9879	broad.mit.edu	37	5	134121257	134121257	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:134121257G>C	ENST00000354283.4	+	11	1580	c.1445G>C	c.(1444-1446)gGa>gCa	p.G482A	DDX46_ENST00000452510.2_Missense_Mutation_p.G482A|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	482	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTACGGAGGAACAGGAATC	0.363																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	0				ovary(1)	1						c.(1444-1446)GGA>GCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							153.0	157.0	156.0					5																	134121257		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134121257G>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1445G>C	5.37:g.134121257G>C	ENSP00000346236:p.Gly482Ala					DDX46_uc003kzv.1_RNA	p.G482A	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1613	+			482			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1445G>C	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302692	0.81136	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.80214	-1.35;-1.35	5.7	5.7	0.88788	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.047704	0.85682	D	0.000000	D	0.92848	0.7725	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94062	0.7327	10	0.87932	D	0	-26.8688	19.8208	0.96592	0.0:0.0:1.0:0.0	.	482	Q7L014	DDX46_HUMAN	A	482	ENSP00000416534:G482A;ENSP00000346236:G482A	ENSP00000346236:G482A	G	+	2	0	DDX46	134149156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.680000	0.91292	0.591000	0.81541	GGA		0.363	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		8	68	0	0	0	0	8	68				
PCDHGB7	56099	broad.mit.edu	37	5	140798773	140798773	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:140798773G>A	ENST00000398594.2	+	1	1347	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A449A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTTTTCG	0.572																																						uc003lkn.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)	2						c.(1345-1347)GCG>GCA		protocadherin gamma subfamily B, 7 isoform 1							64.0	74.0	70.0					5																	140798773		2133	4239	6372	SO:0001819	synonymous_variant	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798773G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1347G>A	5.37:g.140798773G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.A449A|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.A449A	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492	+			449			Extracellular (Potential).|Cadherin 4.		Q9UN63	Silent	SNP	ENST00000398594.2	37	c.1347G>A	CCDS47293.1																																																																																				0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	49	0	0	0	0	4	49				
AFAP1L1	134265	broad.mit.edu	37	5	148715178	148715178	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:148715178A>T	ENST00000296721.4	+	18	2274	c.2176A>T	c.(2176-2178)Aac>Tac	p.N726Y	AFAP1L1_ENST00000515000.1_Intron	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	726						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAACCCCAGAACAGCGTTCC	0.488																																						uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(2176-2178)AAC>TAC		actin filament associated protein 1-like 1							124.0	127.0	126.0					5																	148715178		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148715178A>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2176A>T	5.37:g.148715178A>T	ENSP00000296721:p.Asn726Tyr					AFAP1L1_uc010jgy.2_Intron|AFAP1L1_uc003lqi.1_Missense_Mutation_p.N341Y	p.N726Y	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	2307	+			726					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.2176A>T	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853284	0.32699	.	.	ENSG00000157510	ENST00000296721	T	0.15372	2.43	4.9	1.12	0.20585	.	0.888075	0.10013	N	0.726988	T	0.10637	0.0260	N	0.22421	0.69	0.09310	N	1	B	0.33448	0.412	B	0.28232	0.087	T	0.25779	-1.0122	10	0.59425	D	0.04	-8.6955	7.7668	0.28984	0.5903:0.0:0.4097:0.0	.	726	Q8TED9	AF1L1_HUMAN	Y	726	ENSP00000296721:N726Y	ENSP00000296721:N726Y	N	+	1	0	AFAP1L1	148695371	0.005000	0.15991	0.094000	0.20943	0.118000	0.20060	0.866000	0.27954	0.302000	0.22762	0.454000	0.30748	AAC		0.488	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		5	93	0	0	0	0	5	93				
ATP10B	23120	broad.mit.edu	37	5	160063305	160063305	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:160063305A>T	ENST00000327245.5	-	11	1858	c.1012T>A	c.(1012-1014)Tgg>Agg	p.W338R	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	338					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCCATTCCAGATGCTGTGA	0.493																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1012-1014)TGG>AGG		ATPase, class V, type 10B							91.0	89.0	90.0					5																	160063305		1955	4153	6108	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063305A>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1012T>A	5.37:g.160063305A>T	ENSP00000313600:p.Trp338Arg					ATP10B_uc003lyp.2_Missense_Mutation_p.W338R|ATP10B_uc011deg.1_Missense_Mutation_p.W382R|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Missense_Mutation_p.W310R	p.W338R	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1859	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	338			Helical; (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1012T>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171978	0.57584	.	.	ENSG00000118322	ENST00000327245	D	0.87887	-2.31	5.18	5.18	0.71444	ATPase, P-type, ATPase-associated domain (1);	0.139342	0.49916	D	0.000127	D	0.93674	0.7979	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.996;0.989	D	0.94170	0.7422	9	.	.	.	.	14.5426	0.68005	1.0:0.0:0.0:0.0	.	382;338;310;338	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	R	338	ENSP00000313600:W338R	.	W	-	1	0	ATP10B	159995883	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.945000	0.70226	2.087000	0.62958	0.454000	0.30748	TGG		0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		3	58	0	0	0	0	3	58				
NRSN1	140767	broad.mit.edu	37	6	24145830	24145830	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:24145830G>T	ENST00000378491.4	+	4	545	c.244G>T	c.(244-246)Gtg>Ttg	p.V82L		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTCTGGCAGTGGGCTTTCT	0.478																																						uc010jpq.1		NA																	0					0						c.(244-246)GTG>TTG		neurensin 1							112.0	110.0	110.0					6																	24145830		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145830G>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.244G>T	6.37:g.24145830G>T	ENSP00000367752:p.Val82Leu						p.V82L	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	481	+			82			Helical; (Potential).			Missense_Mutation	SNP	ENST00000378491.4	37	c.244G>T	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925330	0.73213	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18502	2.21	5.46	5.46	0.80206	.	0.056453	0.64402	D	0.000001	T	0.15998	0.0385	M	0.72118	2.19	0.80722	D	1	B	0.26195	0.144	B	0.27715	0.082	T	0.02064	-1.1220	10	0.59425	D	0.04	-27.1931	19.3255	0.94260	0.0:0.0:1.0:0.0	.	82	Q8IZ57	NRSN1_HUMAN	L	82	ENSP00000367752:V82L	ENSP00000367738:V82L	V	+	1	0	NRSN1	24253809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.824000	0.86668	2.571000	0.86741	0.557000	0.71058	GTG		0.478	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		14	149	1	0	4.37e-10	4.9e-10	14	149				
SLC35B2	347734	broad.mit.edu	37	6	44222789	44222789	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:44222789A>T	ENST00000393812.3	-	4	1096	c.953T>A	c.(952-954)cTg>cAg	p.L318Q	SLC35B2_ENST00000538577.1_Missense_Mutation_p.L225Q|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.L185Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	318					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTCTAGCAGTGAGCCCAC	0.557																																						uc003oxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(952-954)CTG>CAG		solute carrier family 35, member B2							58.0	53.0	55.0					6																	44222789		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222789A>T	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.953T>A	6.37:g.44222789A>T	ENSP00000377401:p.Leu318Gln					SLC35B2_uc011dvt.1_Missense_Mutation_p.L221Q|SLC35B2_uc011dvu.1_Missense_Mutation_p.L185Q	p.L318Q	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1089	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		318			Helical; (Potential).		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.953T>A	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	a	21.2	4.107614	0.77096	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.35048	1.33;1.33;1.33	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78127	-0.2325	10	0.87932	D	0	-39.7607	14.8687	0.70437	1.0:0.0:0.0:0.0	.	225;318	F5H7Y9;Q8TB61	.;S35B2_HUMAN	Q	318;185;225;278	ENSP00000377401:L318Q;ENSP00000440340:L185Q;ENSP00000443845:L225Q	ENSP00000342455:L278Q	L	-	2	0	SLC35B2	44330767	1.000000	0.71417	0.450000	0.26969	0.795000	0.44927	9.320000	0.96346	1.923000	0.55706	0.359000	0.22050	CTG		0.557	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			17	37	0	0	0	0	17	37				
HCRTR2	3062	broad.mit.edu	37	6	55113547	55113547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:55113547C>A	ENST00000370862.3	+	2	670	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	112					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCAGCCACACTGGTCGTGGA	0.443																																						uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(334-336)CTG>ATG		orexin receptor 2							240.0	220.0	227.0					6																	55113547		2203	4299	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113547C>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.334C>A	6.37:g.55113547C>A	ENSP00000359899:p.Leu112Met					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L47M	p.L112M	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	649	+	Lung NSC(77;0.107)|Renal(3;0.122)		112			Extracellular (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.334C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610548	0.46527	.	.	ENSG00000137252	ENST00000370862	T	0.30981	1.51	4.5	-3.81	0.04294	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.31918	0.0812	M	0.71036	2.16	0.48901	D	0.999724	P;P	0.51537	0.891;0.946	P;P	0.60068	0.758;0.868	T	0.39542	-0.9609	10	0.44086	T	0.13	.	13.1575	0.59527	0.0:0.383:0.0:0.617	.	112;112	Q548Y0;O43614	.;OX2R_HUMAN	M	112	ENSP00000359899:L112M	ENSP00000359899:L112M	L	+	1	2	HCRTR2	55221506	0.000000	0.05858	0.016000	0.15963	0.813000	0.45954	-0.257000	0.08745	-0.818000	0.04329	-0.378000	0.06908	CTG		0.443	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			18	168	1	0	0.000132079	0.000142404	18	168				
MDN1	23195	broad.mit.edu	37	6	90425374	90425374	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:90425374G>A	ENST00000369393.3	-	45	6973	c.6858C>T	c.(6856-6858)ttC>ttT	p.F2286F	MDN1_ENST00000428876.1_Silent_p.F2286F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2286					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAATACCTGAAATTGGGAT	0.403																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(6856-6858)TTC>TTT		MDN1, midasin homolog							166.0	146.0	153.0					6																	90425374		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90425374G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6858C>T	6.37:g.90425374G>A							p.F2286F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	45	6974	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2286					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6858C>T	CCDS5024.1																																																																																				0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	113	0	0	0	0	10	113				
FAM184A	79632	broad.mit.edu	37	6	119324126	119324126	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:119324126C>G	ENST00000338891.7	-	9	2469	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	FAM184A_ENST00000352896.5_Missense_Mutation_p.D556H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D556H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D676H|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	676						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTCTCGATCTTTCAACTGC	0.358																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2026-2028)GAT>CAT		hypothetical protein LOC79632 isoform 1							152.0	147.0	148.0					6																	119324126		1856	4104	5960	SO:0001583	missense	79632							g.chr6:119324126C>G	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2026G>C	6.37:g.119324126C>G	ENSP00000342604:p.Asp676His					FAM184A_uc003pyk.3_Missense_Mutation_p.D556H|FAM184A_uc003pyl.3_Missense_Mutation_p.D556H	p.D676H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			9	2374	-			676			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2026G>C	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821580	0.50633	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.97	5.97	0.96955	.	0.049297	0.85682	D	0.000000	T	0.19967	0.0480	N	0.22421	0.69	0.80722	D	1	B;B;P	0.35192	0.053;0.011;0.489	B;B;B	0.40256	0.014;0.014;0.324	T	0.05162	-1.0902	10	0.56958	D	0.05	-9.892	20.4238	0.99064	0.0:1.0:0.0:0.0	.	676;556;676	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	676;556;556;676	ENSP00000342604:D676H;ENSP00000326608:D556H;ENSP00000357460:D556H;ENSP00000430442:D676H	ENSP00000342604:D676H	D	-	1	0	FAM184A	119365825	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.467000	0.73547	2.834000	0.97654	0.650000	0.86243	GAT		0.358	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	89	0	0	0	0	11	89				
L3MBTL3	84456	broad.mit.edu	37	6	130370430	130370430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:130370430C>T	ENST00000529410.1	+	6	585	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R36W|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R36W			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	36					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TTGCTAGTTTCGGGTAAATGA	0.368																																						uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(106-108)CGG>TGG		l(3)mbt-like 3 isoform a							86.0	83.0	84.0					6																	130370430		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130370430C>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.106C>T	6.37:g.130370430C>T	ENSP00000431962:p.Arg36Trp					L3MBTL3_uc003qbu.2_Missense_Mutation_p.R36W	p.R36W	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	4	276	+			36					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.106C>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256221	0.59321	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.58652	2.1;2.24;2.1;0.32;2.24;2.24;2.1	5.64	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.74881	2.28	0.43347	D	0.995407	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.73553	-0.3946	10	0.87932	D	0	.	12.8299	0.57740	0.3856:0.6144:0.0:0.0	.	36;36	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	W	36	ENSP00000431962:R36W;ENSP00000437185:R36W;ENSP00000354526:R36W;ENSP00000433257:R36W;ENSP00000357121:R36W;ENSP00000436706:R36W;ENSP00000357118:R36W	ENSP00000354526:R36W	R	+	1	2	L3MBTL3	130412123	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.779000	0.38624	1.346000	0.45694	0.655000	0.94253	CGG		0.368	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		8	25	0	0	0	0	8	25				
BCLAF1	9774	broad.mit.edu	37	6	136597106	136597106	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:136597106C>G	ENST00000531224.1	-	5	1809	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	BCLAF1_ENST00000392348.2_Silent_p.L517L|BCLAF1_ENST00000527759.1_Silent_p.L517L|BCLAF1_ENST00000353331.4_Silent_p.L517L|BCLAF1_ENST00000530767.1_Silent_p.L346L|BCLAF1_ENST00000527536.1_Silent_p.L519L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	519					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCGTGCATCCAGATTCTTGT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1555-1557)CTG>CTC		BCL2-associated transcription factor 1 isoform							208.0	215.0	213.0					6																	136597106		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597106C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1557G>C	6.37:g.136597106C>G						BCLAF1_uc003qgw.1_Silent_p.L346L|BCLAF1_uc003qgy.1_Silent_p.L517L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L517L	p.L519L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1810	-	Colorectal(23;0.24)		519					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1557G>C	CCDS5177.1																																																																																				0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		12	310	0	0	0	0	12	310				
GRM1	2911	broad.mit.edu	37	6	146480529	146480529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:146480529C>T	ENST00000282753.1	+	2	981	c.746C>T	c.(745-747)gCc>gTc	p.A249V	GRM1_ENST00000492807.2_Missense_Mutation_p.A249V|GRM1_ENST00000507907.1_Missense_Mutation_p.A249V|GRM1_ENST00000355289.4_Missense_Mutation_p.A249V|GRM1_ENST00000392299.2_Missense_Mutation_p.A249V|GRM1_ENST00000361719.2_Missense_Mutation_p.A249V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	249					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAGCTGGCTGCCCAGGAAGGC	0.507																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(745-747)GCC>GTC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						107.0	100.0	102.0					6																	146480529		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480529C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.746C>T	6.37:g.146480529C>T	ENSP00000282753:p.Ala249Val					GRM1_uc010khu.1_Missense_Mutation_p.A249V|GRM1_uc010khv.1_Missense_Mutation_p.A249V|GRM1_uc003qll.2_Missense_Mutation_p.A249V|GRM1_uc011edz.1_Missense_Mutation_p.A249V|GRM1_uc011eea.1_Missense_Mutation_p.A249V	p.A249V	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1216	+		Ovarian(120;0.0387)	249			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.746C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273415	0.95459	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.121634	0.56097	D	0.000027	T	0.82019	0.4946	L	0.59436	1.845	0.80722	D	1	B;P;P;B	0.47484	0.409;0.896;0.464;0.409	B;P;B;B	0.48952	0.187;0.596;0.284;0.187	T	0.81439	-0.0932	10	0.39692	T	0.17	.	19.1244	0.93376	0.0:1.0:0.0:0.0	.	249;249;244;249	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	249	ENSP00000354896:A249V;ENSP00000376119:A249V;ENSP00000424095:A249V;ENSP00000282753:A249V;ENSP00000347437:A249V;ENSP00000425599:A249V	ENSP00000282753:A249V	A	+	2	0	GRM1	146522222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.513000	0.84729	0.655000	0.94253	GCC		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		9	82	0	0	0	0	9	82				
INTS1	26173	broad.mit.edu	37	7	1528988	1528988	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:1528988C>T	ENST00000404767.3	-	18	2395	c.2310G>A	c.(2308-2310)gtG>gtA	p.V770V	INTS1_ENST00000389470.4_Silent_p.V898V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	770					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACTTGGTCATCACCATCTCCA	0.682																																						uc003skn.2		NA																	0					0						c.(2308-2310)GTG>GTA		integrator complex subunit 1							32.0	42.0	39.0					7																	1528988		2095	4198	6293	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1528988C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2310G>A	7.37:g.1528988C>T						INTS1_uc003skp.1_Silent_p.V117V	p.V770V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	18	2411	-		Ovarian(82;0.0253)	770					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.2310G>A	CCDS47526.1																																																																																				0.682	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			4	17	0	0	0	0	4	17				
CLIP2	7461	broad.mit.edu	37	7	73790521	73790521	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73790521A>G	ENST00000395060.1	+	9	1790	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	CLIP2_ENST00000361545.5_Missense_Mutation_p.D562G|CLIP2_ENST00000223398.6_Missense_Mutation_p.D597G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	597						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGCCTGAAGGACAAGGTTCAG	0.612																																						uc003uam.2		NA																	0				skin(3)	3						c.(1789-1791)GAC>GGC		CAP-GLY domain containing linker protein 2							59.0	52.0	54.0					7																	73790521		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790521A>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1790A>G	7.37:g.73790521A>G	ENSP00000378500:p.Asp597Gly					CLIP2_uc003uan.2_Missense_Mutation_p.D562G|CLIP2_uc003uao.2_5'UTR	p.D597G	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			10	2117	+			597			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.1790A>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620430	0.28801	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.58358	0.34;0.34;0.34	5.29	-2.27	0.06846	.	0.879234	0.10163	N	0.708053	T	0.28764	0.0713	N	0.08118	0	0.20074	N	0.999939	B;B	0.14805	0.011;0.007	B;B	0.15052	0.012;0.005	T	0.17837	-1.0356	10	0.36615	T	0.2	-4.2031	9.4757	0.38869	0.2689:0.577:0.1541:0.0	.	562;597	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	G	597;597;562;597	ENSP00000223398:D597G;ENSP00000355151:D562G;ENSP00000378500:D597G	ENSP00000223398:D597G	D	+	2	0	CLIP2	73428457	1.000000	0.71417	0.986000	0.45419	0.862000	0.49288	1.449000	0.35123	-0.402000	0.07633	0.456000	0.33151	GAC		0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		5	21	0	0	0	0	5	21				
CLIP2	7461	broad.mit.edu	37	7	73795176	73795176	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73795176C>T	ENST00000395060.1	+	10	2462	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	CLIP2_ENST00000361545.5_Missense_Mutation_p.T786M|CLIP2_ENST00000223398.6_Missense_Mutation_p.T821M			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	821						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGATCAGGACGAAGGAAACT	0.602																																						uc003uam.2		NA																	0				skin(3)	3						c.(2461-2463)ACG>ATG		CAP-GLY domain containing linker protein 2							110.0	113.0	112.0					7																	73795176		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73795176C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2462C>T	7.37:g.73795176C>T	ENSP00000378500:p.Thr821Met					CLIP2_uc003uan.2_Missense_Mutation_p.T786M|CLIP2_uc003uao.2_Missense_Mutation_p.T215M	p.T821M	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			11	2789	+			821			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2462C>T	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.030|0.030	-1.342308|-1.342308	0.01277|0.01277	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|T;T;T	.|0.57907	.|0.37;0.37;0.37	4.44|4.44	2.15|2.15	0.27550|0.27550	.|.	.|0.311802	.|0.35805	.|N	.|0.002975	.|T	.|0.20047	.|0.0482	N|N	0.01168|0.01168	-0.975|-0.975	0.21256|0.21256	N|N	0.999746|0.999746	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	.|T	.|0.20638	.|-1.0269	.|10	.|0.22109	.|T	.|0.4	-19.8416|-19.8416	7.9548|7.9548	0.30035|0.30035	0.0:0.1173:0.0:0.8827|0.0:0.1173:0.0:0.8827	.|.	.|786;786;821	.|A7E2F7;Q9UDT6-2;Q9UDT6	.|.;.;CLIP2_HUMAN	X|M	57|821;821;786;821	.|ENSP00000223398:T821M;ENSP00000355151:T786M;ENSP00000378500:T821M	.|ENSP00000223398:T821M	R|T	+|+	1|2	2|0	CLIP2|CLIP2	73433112|73433112	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.227000|0.227000	0.25037|0.25037	3.259000|3.259000	0.51515|0.51515	0.295000|0.295000	0.22570|0.22570	-0.139000|-0.139000	0.14373|0.14373	CGA|ACG		0.602	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		26	85	0	0	0	0	26	85				
TRPV5	56302	broad.mit.edu	37	7	142625874	142625874	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:142625874T>G	ENST00000265310.1	-	6	1022	c.674A>C	c.(673-675)cAt>cCt	p.H225P	TRPV5_ENST00000442623.1_Missense_Mutation_p.H225P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	225					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGGTCCCCATGTCCATCGTA	0.567																																						uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(673-675)CAT>CCT		transient receptor potential cation channel,							190.0	176.0	180.0					7																	142625874		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625874T>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.674A>C	7.37:g.142625874T>G	ENSP00000265310:p.His225Pro					TRPV5_uc003wbz.2_Missense_Mutation_p.H225P	p.H225P	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			6	938	-	Melanoma(164;0.059)		225			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.674A>C	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414454	0.25465	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.52295	0.67;0.67;0.67	3.15	-1.21	0.09524	Ankyrin repeat-containing domain (3);	1.330700	0.05098	N	0.486624	T	0.35068	0.0919	N	0.16656	0.425	0.09310	N	1	P;P	0.41524	0.501;0.753	B;B	0.41764	0.366;0.26	T	0.34800	-0.9814	10	0.46703	T	0.11	-4.8214	9.445	0.38693	0.0:0.3443:0.0:0.6557	.	225;225	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	P	225;219;225	ENSP00000265310:H225P;ENSP00000406361:H219P;ENSP00000406572:H225P	ENSP00000265310:H225P	H	-	2	0	TRPV5	142335996	0.000000	0.05858	0.000000	0.03702	0.648000	0.38561	-0.877000	0.04197	-0.644000	0.05465	-0.464000	0.05259	CAT		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		4	92	0	0	0	0	4	92				
OR2F2	135948	broad.mit.edu	37	7	143632931	143632931	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:143632931T>G	ENST00000408955.2	+	1	673	c.606T>G	c.(604-606)tcT>tcG	p.S202S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCATGGTGTCTAGCATTGTTC	0.478																																						uc011ktv.1		NA																	0				ovary(3)|skin(1)	4						c.(604-606)TCT>TCG		olfactory receptor, family 2, subfamily F,							216.0	191.0	200.0					7																	143632931		2203	4300	6503	SO:0001819	synonymous_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632931T>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.606T>G	7.37:g.143632931T>G							p.S202S	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	606	+	Melanoma(164;0.0903)		202			Helical; Name=5; (Potential).		A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	c.606T>G	CCDS43666.1																																																																																				0.478	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			15	56	0	0	0	0	15	56				
POTEA	340441	broad.mit.edu	37	8	43147925	43147925	+	RNA	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:43147925A>G	ENST00000522175.2	+	0	300							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAGAAGAAGAGGTAACCGGG	0.627																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(298-300)AGG>GGG		POTE ankyrin domain family, member A isoform 2							34.0	40.0	38.0					8																	43147925		2185	4292	6477			340441							g.chr8:43147925A>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147925A>G						POTEA_uc003xqa.1_Missense_Mutation_p.R100G	p.R100G	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	341	+			100			ANK 1.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.298A>G																																																																																					0.627	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		3	56	0	0	0	0	3	56				
ATP6V1C1	528	broad.mit.edu	37	8	104054601	104054601	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:104054601G>A	ENST00000395862.3	+	3	325	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D56N|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000521514.1_De_novo_Start_OutOfFrame	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	56					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|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 part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TGGCTTGTCAGATGAACTGGC	0.363																																						uc003ykz.3		NA																	0					0						c.(166-168)GAT>AAT		ATPase, H+ transporting, lysosomal V1 subunit							227.0	216.0	220.0					8																	104054601		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104054601G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.166G>A	8.37:g.104054601G>A	ENSP00000379203:p.Asp56Asn					ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.D56N|ATP6V1C1_uc011lhl.1_Intron	p.D56N	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		3	411	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		56						Missense_Mutation	SNP	ENST00000395862.3	37	c.166G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508447	0.96386	.	.	ENSG00000155097	ENST00000395862;ENST00000518738	T;T	0.60424	0.19;0.19	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89605	0.3837	10	0.87932	D	0	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	56	P21283	VATC1_HUMAN	N	56	ENSP00000379203:D56N;ENSP00000430282:D56N	ENSP00000379203:D56N	D	+	1	0	ATP6V1C1	104123777	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	9.105000	0.94246	2.721000	0.93114	0.650000	0.86243	GAT		0.363	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		12	128	0	0	0	0	12	128				
SLC25A51	92014	broad.mit.edu	37	9	37887716	37887716	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:37887716G>A	ENST00000377716.2	-	3	1575	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	SLC25A51_ENST00000242275.6_Missense_Mutation_p.R278W|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R278W|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	278					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											ATGAGGGACCGATGGTAATTC	0.393																																						uc004aau.2		NA																	0				ovary(2)|breast(1)	3						c.(832-834)CGG>TGG		mitochondrial carrier triple repeat 1							51.0	54.0	53.0					9																	37887716		2201	4295	6496	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37887716G>A	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.832C>T	9.37:g.37887716G>A	ENSP00000366945:p.Arg278Trp					MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.R278W	p.R278W	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN		GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)	3	1576	-			278			Helical; Name=6; (Potential).|Solcar 3.			Missense_Mutation	SNP	ENST00000377716.2	37	c.832C>T	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	15.40	2.821230	0.50633	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	D;D;D	0.81821	-1.54;-1.54;-1.54	5.24	4.35	0.52113	Mitochondrial carrier domain (2);	0.075770	0.52532	D	0.000079	D	0.86594	0.5970	M	0.76938	2.355	0.58432	D	0.999999	D	0.56746	0.977	P	0.57679	0.825	D	0.87969	0.2735	10	0.87932	D	0	.	11.9156	0.52763	0.0855:0.0:0.9145:0.0	.	278	Q9H1U9	MCAR1_HUMAN	W	278	ENSP00000369964:R278W;ENSP00000366945:R278W;ENSP00000242275:R278W	ENSP00000242275:R278W	R	-	1	2	MCART1	37877716	1.000000	0.71417	0.949000	0.38748	0.450000	0.32258	6.024000	0.70857	1.354000	0.45846	-0.237000	0.12165	CGG		0.393	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		10	48	0	0	0	0	10	48				
GPR107	57720	broad.mit.edu	37	9	132887236	132887236	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:132887236A>G	ENST00000372406.1	+	17	2000	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C	GPR107_ENST00000347136.6_Missense_Mutation_p.Y450C|GPR107_ENST00000372410.3_Missense_Mutation_p.Y469C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	498						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGACATTATTACGTCTTGGTA	0.308																																						uc004bze.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1492-1494)TAC>TGC		G protein-coupled receptor 107 isoform 1							61.0	56.0	57.0					9																	132887236		2196	4295	6491	SO:0001583	missense	57720					integral to membrane		g.chr9:132887236A>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1493A>G	9.37:g.132887236A>G	ENSP00000361483:p.Tyr498Cys					GPR107_uc004bzb.2_Missense_Mutation_p.Y261C|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.Y469C|GPR107_uc004bzd.2_Missense_Mutation_p.Y450C	p.Y498C	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			17	1720	+		Ovarian(14;0.000531)	498					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1493A>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195880	0.78902	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.37235	1.21;1.55;1.35	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.66317	0.2777	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.74321	-0.3703	10	0.72032	D	0.01	-17.2082	13.9015	0.63806	1.0:0.0:0.0:0.0	.	469;498;450	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	C	498;450;469	ENSP00000361483:Y498C;ENSP00000336988:Y450C;ENSP00000361487:Y469C	ENSP00000336988:Y450C	Y	+	2	0	GPR107	131927057	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.157000	0.89647	2.026000	0.59711	0.524000	0.50904	TAC		0.308	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			2	3	0	0	0	0	2	3				
RPS6KA6	27330	broad.mit.edu	37	X	83357104	83357104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:83357104G>A	ENST00000262752.2	-	18	1724	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	RPS6KA6_ENST00000495332.1_Intron|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R573*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	573	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTTCTCCTCGAAGTTGTTTT	0.368																																						uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1717-1719)CGA>TGA		ribosomal protein S6 kinase polypeptide 6							122.0	103.0	110.0					X																	83357104		2203	4300	6503	SO:0001587	stop_gained	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83357104G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1717C>T	X.37:g.83357104G>A	ENSP00000262752:p.Arg573*					RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.R573*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.R470*	p.R573*	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			18	1794	-			573			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	c.1717C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	38	6.878812	0.97904	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	4.25	0.50352	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5415	0.39255	0.0779:0.0:0.7806:0.1414	.	.	.	.	X	573	.	ENSP00000262752:R573X	R	-	1	2	RPS6KA6	83243760	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.065000	0.49994	1.063000	0.40649	0.523000	0.50628	CGA		0.368	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		15	7	0	0	0	0	15	7				
KLHL4	56062	broad.mit.edu	37	X	86890582	86890582	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:86890582C>T	ENST00000373119.4	+	9	1877	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	KLHL4_ENST00000373114.4_Missense_Mutation_p.R578C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	578						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATTGGTGGACGTGATGGAAG	0.398																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1732-1734)CGT>TGT		kelch-like 4 isoform 1							106.0	89.0	94.0					X																	86890582		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890582C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1732C>T	X.37:g.86890582C>T	ENSP00000362211:p.Arg578Cys					KLHL4_uc004efa.2_Missense_Mutation_p.R578C	p.R578C	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	1914	+			578			Kelch 4.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1732C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.361087	0.61403	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.77750	-1.12;-1.12	4.44	4.44	0.53790	Galactose oxidase, beta-propeller (1);	0.127317	0.53938	D	0.000058	T	0.78181	0.4243	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.79398	-0.1820	10	0.54805	T	0.06	.	10.7686	0.46308	0.1893:0.8107:0.0:0.0	.	578;578	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	C	578	ENSP00000362211:R578C;ENSP00000362206:R578C	ENSP00000362206:R578C	R	+	1	0	KLHL4	86777238	0.841000	0.29509	0.997000	0.53966	0.995000	0.86356	1.411000	0.34702	2.173000	0.68751	0.513000	0.50165	CGT		0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			11	12	0	0	0	0	11	12				
CCER1	196477	broad.mit.edu	37	12	91347586	91347587	+	In_Frame_Ins	INS	-	-	TTG	rs3832847		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:91347586_91347587insTTG	ENST00000358859.2	-	1	1366_1367	c.933_934insCAA	c.(931-936)gaggaa>gagCAAgaa	p.311_312EE>EQE	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	311	Glu-rich.																tcgacctcttcctcctcatctt	0.525																																						uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(931-936)insCAA		hypothetical protein LOC196477																																				SO:0001652	inframe_insertion	196477							g.chr12:91347586_91347587insTTG	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.933_934insCAA	12.37:g.91347586_91347587insTTG	ENSP00000351727:p.Glu311_Glu312insGln						p.311_312insQ	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1367_1368	-			311_312			Potential.|Glu-rich.		Q8TC47	In_Frame_Ins	INS	ENST00000358859.2	37	c.933_934insCAA	CCDS9036.1																																																																																				0.525	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		10	67	NA	NA	NA	NA	10	67	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3086058	3086059	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:3086058_3086059insT	ENST00000356443.4	-	30	4561_4562	c.4228_4229insA	c.(4228-4230)atafs	p.I1410fs	MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.I1410fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.I1314fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1410	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGGTACATATACCATCCTTA	0.366																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4228-4230)ATAfs		myomesin 1 isoform a																																				SO:0001589	frameshift_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3086058_3086059insT	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4229dupA	18.37:g.3086059_3086059dupT	ENSP00000348821:p.Ile1410fs					MYOM1_uc002klq.2_Frame_Shift_Ins_p.I1314fs	p.I1410fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN			30	4562_4563	-			1410			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Ins	INS	ENST00000356443.4	37	c.4228_4229insA	CCDS45824.1																																																																																				0.366	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		13	86	NA	NA	NA	NA	13	86	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198953700	198953701	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:198953700_198953701delTT	ENST00000428675.1	+	3	3232_3233	c.2834_2835delTT	c.(2833-2835)cttfs	p.L945fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.L847fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	945					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAGTCTCACTTGTGATGAAAG	0.47																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2833-2835)CTTfs		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)																																			SO:0001589	frameshift_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198953700_198953701delTT	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2834_2835delTT	2.37:g.198953700_198953701delTT	ENSP00000402861:p.Leu945fs					PLCL1_uc002uuv.3_Frame_Shift_Del_p.L866fs	p.L945fs	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			3	3125_3126	+			945					Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	ENST00000428675.1	37	c.2834_2835delTT	CCDS2326.2																																																																																				0.470	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		42	261	NA	NA	NA	NA	42	261	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53222779	53222780	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:53222779_53222780insT	ENST00000394729.2	+	15	1787_1788	c.1459_1460insT	c.(1459-1461)atcfs	p.I487fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.I487fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GGATGGCCACATCAAGATTGCC	0.564																																						uc003dgl.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1459-1461)ATCfs		protein kinase C, delta																																				SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222779_53222780insT		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1460dupT	3.37:g.53222780_53222780dupT	ENSP00000378217:p.Ile487fs					PRKCD_uc003dgm.2_Frame_Shift_Ins_p.I487fs	p.I487fs	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	16	1812_1813	+		Ovarian(412;0.0728)	487			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	ENST00000394729.2	37	c.1459_1460insT	CCDS2870.1																																																																																				0.564	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			25	97	NA	NA	NA	NA	25	97	---	---	---	---
