#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11595166	11595166	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:11595166C>A	ENST00000294484.6	+	19	3772	c.3634C>A	c.(3634-3636)Ctc>Atc	p.L1212I	PTCHD2_ENST00000304391.6_Missense_Mutation_p.A98D|PTCHD2_ENST00000389575.3_Missense_Mutation_p.L1212I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1212					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGCCCGTGCTCCTCAGCAT	0.687																																							uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3634-3636)CTC>ATC		patched domain containing 2							34.0	43.0	40.0					1																	11595166		2189	4276	6465	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11595166C>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3634C>A	1.37:g.11595166C>A	ENSP00000294484:p.Leu1212Ile						p.L1212I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	19	3772	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1212			Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3634C>A	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.286330|4.286330	0.80803|0.80803	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.92299	.|-3.01;-1.97	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.92967|0.92967	0.7762|0.7762	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.76494	.|0.999	.|D	.|0.73708	.|0.981	D|D	0.90038|0.90038	0.4140|0.4140	6|10	0.87932|0.14252	D|T	0|0.57	-34.8783|-34.8783	18.0998|18.0998	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1212	.|Q9P2K9	.|PTHD2_HUMAN	D|I	98|1212	.|ENSP00000294484:L1212I;ENSP00000374226:L1212I	ENSP00000303400:A98D|ENSP00000294484:L1212I	A|L	+|+	2|1	0|0	PTCHD2|PTCHD2	11517753|11517753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.678000|4.678000	0.61641|0.61641	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GCT|CTC		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		3	21	1	0	0.000602214	0.014758	0.000619421	3	21				
MFN2	9927	broad.mit.edu	37	1	12069782	12069782	+	Splice_Site	SNP	A	A	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:12069782A>C	ENST00000235329.5	+	18	2525	c.2203A>C	c.(2203-2205)Agg>Cgg	p.R735R	MFN2_ENST00000444836.1_Splice_Site_p.R735R	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	735					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGCTGCTCAGGTGAGGCTG	0.572																																							uc001atn.3		NA																	0				ovary(1)	1						c.(2203-2205)AGG>CGG		mitofusin 2							56.0	56.0	56.0					1																	12069782		2203	4300	6503	SO:0001630	splice_region_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12069782A>C	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2204+1A>C	1.37:g.12069782A>C						MFN2_uc009vni.2_Silent_p.R735R	p.R735R	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	18	2656	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	735			Cytoplasmic (Potential).|Potential.		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.2203A>C	CCDS30587.1																																																																																				0.572	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	Silent	4	32	0	0	0	0.014758	0	4	32				
PDPN	10630	broad.mit.edu	37	1	13940881	13940881	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:13940881A>G	ENST00000509009.1	+	5	486	c.442A>G	c.(442-444)Atg>Gtg	p.M148V	PDPN_ENST00000376057.4_Missense_Mutation_p.M229V|PDPN_ENST00000376061.4_Missense_Mutation_p.M111V|PDPN_ENST00000487038.1_Missense_Mutation_p.M111V|PDPN_ENST00000294489.6_Missense_Mutation_p.M229V|PDPN_ENST00000475043.1_Missense_Mutation_p.M111V|PDPN_ENST00000513143.1_Missense_Mutation_p.M111V					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGTTGTGGTTATGCGAAAAAT	0.423																																							uc001avd.2		NA																	0				ovary(2)	2						c.(685-687)ATG>GTG		lung type-I cell membrane-associated							200.0	188.0	192.0					1																	13940881		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940881A>G	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.442A>G	1.37:g.13940881A>G	ENSP00000422977:p.Met148Val					PDPN_uc001avc.2_Missense_Mutation_p.M229V|PDPN_uc009vob.2_Missense_Mutation_p.M111V|PDPN_uc009voc.2_Missense_Mutation_p.M111V|PDPN_uc001ave.2_Missense_Mutation_p.M111V|PDPN_uc001avf.2_Missense_Mutation_p.M111V	p.M229V	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	5	734	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	153			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000509009.1	37	c.685A>G		.	.	.	.	.	.	.	.	.	.	A	0.301	-0.974124	0.02215	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.93	-0.235	0.13071	.	0.641146	0.15012	N	0.285502	T	0.12050	0.0293	N	0.21194	0.64	0.09310	N	1	B;B;B;B	0.13594	0.003;0.003;0.008;0.008	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.32534	-0.9903	10	0.15066	T	0.55	-32.1413	4.1488	0.10228	0.4622:0.0:0.381:0.1568	.	153;111;229;229	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	229;229;220;148;111;111;111;111	ENSP00000294489:M229V;ENSP00000365225:M229V;ENSP00000426302:M220V;ENSP00000422977:M148V;ENSP00000365229:M111V;ENSP00000425304:M111V;ENSP00000427537:M111V;ENSP00000426063:M111V	ENSP00000294489:M229V	M	+	1	0	PDPN	13813468	0.249000	0.23941	0.000000	0.03702	0.902000	0.53008	1.141000	0.31528	-0.301000	0.08882	0.533000	0.62120	ATG		0.423	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		20	96	0	0	0	0.01892	0	20	96				
HSPG2	3339	broad.mit.edu	37	1	22173972	22173972	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:22173972T>A	ENST00000374695.3	-	62	8118	c.8039A>T	c.(8038-8040)cAc>cTc	p.H2680L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2680	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAACCGCAGGTGGGAGCCATG	0.632																																							uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8038-8040)CAC>CTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						89.0	86.0	87.0					1																	22173972		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173972T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8039A>T	1.37:g.22173972T>A	ENSP00000363827:p.His2680Leu					HSPG2_uc009vqd.2_Missense_Mutation_p.H2681L	p.H2680L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	62	8079	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2680			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8039A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	6.008	0.369795	0.11352	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.66995	-0.24;-0.24	5.5	-0.658	0.11428	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.594049	0.14004	N	0.347933	T	0.29158	0.0725	N	0.01405	-0.89	0.24788	N	0.99277	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.26608	-1.0098	10	0.11485	T	0.65	.	6.3285	0.21257	0.129:0.6367:0.0:0.2342	.	620;2680	Q59EG0;P98160	.;PGBM_HUMAN	L	2680;95	ENSP00000363827:H2680L;ENSP00000396310:H95L	ENSP00000363827:H2680L	H	-	2	0	HSPG2	22046559	0.043000	0.20138	0.983000	0.44433	0.717000	0.41224	0.055000	0.14229	-0.439000	0.07222	-0.297000	0.09499	CAC		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		38	121	0	0	0	0.01441	0	38	121				
CYP4A11	1579	broad.mit.edu	37	1	47406939	47406939	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:47406939G>T	ENST00000310638.4	-	1	198	c.167C>A	c.(166-168)tCc>tAc	p.S56Y	CYP4A11_ENST00000462347.1_Missense_Mutation_p.S56Y|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S56Y|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S56Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	56					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAGCCAGTGGGAGGGAGGGCA	0.597																																							uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(166-168)TCC>TAC		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						62.0	56.0	58.0					1																	47406939		2203	4298	6501	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47406939G>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.167C>A	1.37:g.47406939G>T	ENSP00000311095:p.Ser56Tyr					CYP4A11_uc001cqq.2_Missense_Mutation_p.S56Y|CYP4A11_uc010omm.1_RNA	p.S56Y	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			1	218	-			56					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.167C>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	11.48	1.651104	0.29336	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.69175	-0.38;-0.38;-0.38	4.92	0.855	0.19013	.	0.379234	0.23354	N	0.049081	T	0.63593	0.2524	L	0.39467	1.215	0.09310	N	1	P	0.36660	0.564	P	0.52710	0.707	T	0.56068	-0.8040	10	0.54805	T	0.06	.	1.9409	0.03346	0.3065:0.1233:0.444:0.1261	.	56	Q02928	CP4AB_HUMAN	Y	56	ENSP00000311095:S56Y;ENSP00000360971:S56Y;ENSP00000360972:S56Y	ENSP00000311095:S56Y	S	-	2	0	CYP4A11	47179526	0.000000	0.05858	0.707000	0.30419	0.154000	0.21943	0.085000	0.14912	0.078000	0.16900	-0.147000	0.13772	TCC		0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		17	76	1	0	1.99824e-07	0.00499	2.07509e-07	17	76				
INSL5	10022	broad.mit.edu	37	1	67263711	67263711	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:67263711C>G	ENST00000304526.2	-	2	427	c.393G>C	c.(391-393)ttG>ttC	p.L131F		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	131						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AAAGAGCACTCAAATCAGTCA	0.403																																							uc001dcw.2		NA																	0					0						c.(391-393)TTG>TTC		insulin-like 5 precursor							88.0	74.0	79.0					1																	67263711		2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67263711C>G	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.393G>C	1.37:g.67263711C>G	ENSP00000302724:p.Leu131Phe						p.L131F	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			2	428	-			131					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.393G>C	CCDS634.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436466	0.43224	.	.	ENSG00000172410	ENST00000304526	D	0.93953	-3.32	4.96	1.85	0.25348	Insulin, conserved site (1);Insulin-like (4);	0.000000	0.50627	D	0.000114	D	0.92877	0.7734	M	0.77820	2.39	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85632	0.1271	10	0.66056	D	0.02	-5.5589	3.2746	0.06894	0.1718:0.5511:0.1798:0.0973	.	131	Q9Y5Q6	INSL5_HUMAN	F	131	ENSP00000302724:L131F	ENSP00000302724:L131F	L	-	3	2	INSL5	67036299	0.018000	0.18449	0.039000	0.18376	0.068000	0.16541	0.011000	0.13264	0.606000	0.29965	0.650000	0.86243	TTG		0.403	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		9	54	0	0	0	0.008291	0	9	54				
MAN1A2	10905	broad.mit.edu	37	1	117910819	117910819	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:117910819C>T	ENST00000356554.3	+	1	749	c.14C>T	c.(13-15)gCc>gTc	p.A5V	RP11-188D8.1_ENST00000604156.1_lincRNA|MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	5					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		ACTACCCCAGCCCTGCTGCCC	0.468																																					Ovarian(33;199 881 8228 13687 31538)	Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NA																	0					0						c.(13-15)GCC>GTC		mannosidase, alpha, class 1A, member 2							83.0	90.0	88.0					1																	117910819		2203	4300	6503	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117910819C>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.14C>T	1.37:g.117910819C>T	ENSP00000348959:p.Ala5Val					MAN1A2_uc009whg.1_5'UTR	p.A5V	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	1	735	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	5			Cytoplasmic (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.14C>T	CCDS895.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956050	0.92726	.	.	ENSG00000198162	ENST00000356554	D	0.83506	-1.73	4.88	3.9	0.45041	.	0.173828	0.49305	D	0.000151	T	0.69415	0.3108	L	0.51422	1.61	0.50632	D	0.999882	B	0.18310	0.027	B	0.11329	0.006	T	0.73658	-0.3913	10	0.62326	D	0.03	-10.1659	12.3136	0.54942	0.0:0.8279:0.1721:0.0	.	5	O60476	MA1A2_HUMAN	V	5	ENSP00000348959:A5V	ENSP00000348959:A5V	A	+	2	0	MAN1A2	117712342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.527000	0.67123	2.251000	0.74343	0.555000	0.69702	GCC		0.468	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		13	82	0	0	0	0.020292	0	13	82				
HIST2H2BF	440689	broad.mit.edu	37	1	149783693	149783693	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:149783693G>A	ENST00000369167.1	-	1	221	c.186C>T	c.(184-186)atC>atT	p.I62I	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Silent_p.I62I|HIST2H2BF_ENST00000427880.2_Silent_p.I62I	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	62					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I62I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGGAGTTCATGATGCCCATGG	0.612																																							uc001esr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)ATC>ATT		histone cluster 2, H2bf isoform a							116.0	106.0	110.0					1																	149783693		2203	4297	6500	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783693G>A	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.186C>T	1.37:g.149783693G>A						HIST2H2BF_uc010pbj.1_Silent_p.I62I|HIST2H2BF_uc010pbk.1_Silent_p.I62I	p.I62I	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	236	-	Breast(34;0.0124)|all_hematologic(923;0.127)		62					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.186C>T	CCDS30846.1																																																																																				0.612	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		7	320	0	0	0	0.001984	0	7	320				
PRPF3	9129	broad.mit.edu	37	1	150312943	150312943	+	Silent	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:150312943C>G	ENST00000324862.6	+	9	1437	c.1272C>G	c.(1270-1272)ctC>ctG	p.L424L	PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.L375L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	424					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L424L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGCCCAGCTCAATCCTCCAG	0.373																																					Ovarian(168;1070 2670 5178 20729)	Ovarian(168;1070 2670 5178 20729)	uc001eum.3		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(1)	1						c.(1270-1272)CTC>CTG		PRP3 pre-mRNA processing factor 3 homolog							77.0	71.0	73.0					1																	150312943		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312943C>G	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1272C>G	1.37:g.150312943C>G						PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L383L|PRPF3_uc010pcb.1_Silent_p.L375L|PRPF3_uc009wlq.1_RNA	p.L424L	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1434	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		424					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.1272C>G	CCDS951.1																																																																																				0.373	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		4	95	0	0	0	0.009096	0	4	95				
FLG	2312	broad.mit.edu	37	1	152276983	152276983	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:152276983G>A	ENST00000368799.1	-	3	10414	c.10379C>T	c.(10378-10380)tCa>tTa	p.S3460L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3460	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCCTGAGTGTCCAGA	0.572									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10378-10380)TCA>TTA		filaggrin							299.0	288.0	292.0					1																	152276983		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276983G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10379C>T	1.37:g.152276983G>A	ENSP00000357789:p.Ser3460Leu						p.S3460L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10415	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3460			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10379C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084950	0.36758	.	.	ENSG00000143631	ENST00000368799	T	0.02015	4.5	3.66	0.399	0.16325	.	.	.	.	.	T	0.04452	0.0122	M	0.82517	2.595	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.20174	-1.0283	9	0.62326	D	0.03	.	6.0205	0.19626	0.1149:0.3323:0.5528:0.0	.	3460	P20930	FILA_HUMAN	L	3460	ENSP00000357789:S3460L	ENSP00000357789:S3460L	S	-	2	0	FLG	150543607	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	0.683000	0.25349	-0.150000	0.11195	0.398000	0.26397	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	751	0	0	0	0.004482	0	10	751				
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																							uc001fst.1		NA																	1	Substitution - Nonsense(1)		endometrium(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2671-2673)CGA>TGA		spectrin, alpha, erythrocytic 1							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*						p.R891*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2870	-	all_hematologic(112;0.0378)		891			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		54	180	0	0	0	0.01441	0	54	180				
C1orf116	79098	broad.mit.edu	37	1	207196808	207196808	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:207196808T>C	ENST00000359470.5	-	4	550	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	101						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGCTGAGTGATGGTCTCCTCT	0.567																																							uc001hfd.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(301-303)ATC>GTC		specifically androgen-regulated protein isoform							35.0	35.0	35.0					1																	207196808		2196	4273	6469	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207196808T>C		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.301A>G	1.37:g.207196808T>C	ENSP00000352447:p.Ile101Val					C1orf116_uc009xcb.1_5'UTR	p.I101V	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	560	-	Prostate(682;0.19)		101					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.301A>G	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	T	2.099	-0.406592	0.04832	.	.	ENSG00000182795	ENST00000359470	T	0.08193	3.12	4.24	-4.09	0.03951	.	2.116720	0.01575	N	0.020782	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.30650	-0.9971	10	0.06757	T	0.87	0.4897	1.8817	0.03229	0.1608:0.4052:0.1642:0.2699	.	101	Q9BW04	SARG_HUMAN	V	101	ENSP00000352447:I101V	ENSP00000352447:I101V	I	-	1	0	C1orf116	205263431	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.692000	0.05127	-0.492000	0.06687	-0.290000	0.09829	ATC		0.567	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		14	44	0	0	0	0.00499	0	14	44				
TLR5	7100	broad.mit.edu	37	1	223285659	223285659	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:223285659T>C	ENST00000540964.1	-	4	1176	c.715A>G	c.(715-717)Aca>Gca	p.T239A	TLR5_ENST00000342210.6_Missense_Mutation_p.T239A			O60602	TLR5_HUMAN	toll-like receptor 5	239					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATGTCCACTGTCCAGCCATTT	0.468																																							uc001hnv.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(715-717)ACA>GCA		toll-like receptor 5 precursor							109.0	97.0	101.0					1																	223285659		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285659T>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.715A>G	1.37:g.223285659T>C	ENSP00000440643:p.Thr239Ala					TLR5_uc001hnw.1_Missense_Mutation_p.T239A	p.T239A	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1161	-			239			Extracellular (Potential).		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.715A>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513917	0.27123	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.84442	-1.85;-1.85;-1.85	5.3	-1.97	0.07503	.	1.079060	0.07003	N	0.823701	T	0.80722	0.4677	M	0.68317	2.08	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.64546	-0.6382	10	0.44086	T	0.13	.	4.7408	0.13012	0.2538:0.3822:0.0:0.364	.	239	O60602	TLR5_HUMAN	A	239	ENSP00000440643:T239A;ENSP00000355846:T239A;ENSP00000340089:T239A	ENSP00000340089:T239A	T	-	1	0	TLR5	221352282	0.000000	0.05858	0.077000	0.20336	0.989000	0.77384	-0.247000	0.08866	-0.270000	0.09285	0.533000	0.62120	ACA		0.468	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		3	92	0	0	0	0.009096	0	3	92				
PCNXL2	80003	broad.mit.edu	37	1	233296064	233296064	+	Missense_Mutation	SNP	A	A	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:233296064A>T	ENST00000258229.9	-	19	3716	c.3482T>A	c.(3481-3483)cTc>cAc	p.L1161H	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L294H|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1161						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTTGTTTTTGAGAATGGGGTG	0.443																																							uc001hvl.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(3481-3483)CTC>CAC		pecanex-like 2							86.0	82.0	83.0					1																	233296064		1884	4117	6001	SO:0001583	missense	80003					integral to membrane		g.chr1:233296064A>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3482T>A	1.37:g.233296064A>T	ENSP00000258229:p.Leu1161His					PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.L1161H	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			19	3717	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1161					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3482T>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763953	0.69878	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.19938	2.11	4.54	4.54	0.55810	.	.	.	.	.	T	0.51278	0.1665	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61182	-0.7114	9	0.87932	D	0	.	14.0656	0.64826	1.0:0.0:0.0:0.0	.	1161	A6NKB5	PCX2_HUMAN	H	1161;294	ENSP00000258229:L1161H	ENSP00000258229:L1161H	L	-	2	0	PCNXL2	231362687	1.000000	0.71417	0.190000	0.23270	0.723000	0.41478	8.719000	0.91436	1.878000	0.54408	0.528000	0.53228	CTC		0.443	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		5	49	0	0	0	0.00308	0	5	49				
RYR2	6262	broad.mit.edu	37	1	237791371	237791371	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:237791371G>A	ENST00000366574.2	+	41	6748	c.6431G>A	c.(6430-6432)cGt>cAt	p.R2144H	RYR2_ENST00000542537.1_Missense_Mutation_p.R2128H|RYR2_ENST00000360064.6_Missense_Mutation_p.R2142H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2144	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCATGATTCGTGGATTAGGG	0.408																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6430-6432)CGT>CAT		cardiac muscle ryanodine receptor							110.0	119.0	116.0					1																	237791371		1952	4140	6092	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791371G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6431G>A	1.37:g.237791371G>A	ENSP00000355533:p.Arg2144His						p.R2144H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6551	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2144			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6431G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615498	0.46631	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.08;-4.11	5.53	4.62	0.57501	Intracellular calcium-release channel (1);	0.083612	0.44483	N	0.000450	D	0.95027	0.8390	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.95022	0.8161	10	0.59425	D	0.04	-7.0119	10.7366	0.46128	0.1457:0.0:0.8543:0.0	.	2144	Q92736	RYR2_HUMAN	H	2144;2142;2128	ENSP00000355533:R2144H;ENSP00000353174:R2142H;ENSP00000443798:R2128H	ENSP00000353174:R2142H	R	+	2	0	RYR2	235857994	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.287000	0.51732	1.480000	0.48289	-0.218000	0.12543	CGT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		21	39	0	0	0	0.021523	0	21	39				
ZNF496	84838	broad.mit.edu	37	1	247464553	247464553	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:247464553C>G	ENST00000294753.4	-	9	1496	c.1032G>C	c.(1030-1032)gaG>gaC	p.E344D	ZNF496_ENST00000366498.2_Missense_Mutation_p.E380D|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	344					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CCAGGCTGTTCTCTAGAGATC	0.617																																							uc001ico.2		NA																	0		p.E344Q(1)		ovary(1)|central_nervous_system(1)	2						c.(1030-1032)GAG>GAC		zinc finger protein 496							66.0	74.0	72.0					1																	247464553		2142	4206	6348	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464553C>G	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1032G>C	1.37:g.247464553C>G	ENSP00000294753:p.Glu344Asp					ZNF496_uc009xgv.2_Missense_Mutation_p.E380D|ZNF496_uc001icp.2_Missense_Mutation_p.E344D	p.E344D	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1497	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		344					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1032G>C	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128155	0.20959	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07567	3.18;3.18	4.28	1.31	0.21738	.	0.793754	0.11089	N	0.601000	T	0.06462	0.0166	N	0.24115	0.695	0.09310	N	1	P;B	0.46142	0.873;0.0	B;B	0.43251	0.413;0.001	T	0.39820	-0.9595	10	0.27785	T	0.31	-11.767	7.7707	0.29006	0.0:0.5988:0.3115:0.0898	.	380;344	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	D	344;380	ENSP00000294753:E344D;ENSP00000355454:E380D	ENSP00000294753:E344D	E	-	3	2	ZNF496	245531176	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.246000	0.32803	0.183000	0.20059	-0.175000	0.13238	GAG		0.617	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		3	106	0	0	0	0.004672	0	3	106				
OR2G2	81470	broad.mit.edu	37	1	247752444	247752444	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:247752444G>A	ENST00000320065.1	+	1	783	c.783G>A	c.(781-783)atG>atA	p.M261I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			tcatcttcatgtatctgcagC	0.473																																							uc010pyy.1		NA																	0					0						c.(781-783)ATG>ATA		olfactory receptor, family 2, subfamily G,							135.0	123.0	127.0					1																	247752444		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752444G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.783G>A	1.37:g.247752444G>A	ENSP00000326349:p.Met261Ile						p.M261I	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	783	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		261			Helical; Name=6; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.783G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985462	0.35036	.	.	ENSG00000177489	ENST00000320065	T	0.00145	8.67	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.305357	0.22366	N	0.061018	T	0.00144	0.0004	N	0.25825	0.765	0.20703	N	0.999861	P	0.48640	0.913	P	0.52189	0.692	T	0.49011	-0.8983	10	0.40728	T	0.16	.	5.1447	0.14979	0.1087:0.0:0.6883:0.2029	.	261	Q8NGZ5	OR2G2_HUMAN	I	261	ENSP00000326349:M261I	ENSP00000326349:M261I	M	+	3	0	OR2G2	245819067	0.000000	0.05858	1.000000	0.80357	0.480000	0.33159	-0.540000	0.06106	1.009000	0.39289	0.591000	0.81541	ATG		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			35	99	0	0	0	0.015359	0	35	99				
OR1C1	26188	broad.mit.edu	37	1	247921555	247921555	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:247921555C>G	ENST00000408896.2	-	1	427	c.154G>C	c.(154-156)Gac>Cac	p.D52H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGTGAGAGTCAAAGCCAATC	0.473																																							uc010pza.1		NA																	0				skin(1)	1						c.(154-156)GAC>CAC		olfactory receptor, family 1, subfamily C,							84.0	81.0	82.0					1																	247921555		2122	4250	6372	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921555C>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.154G>C	1.37:g.247921555C>G	ENSP00000386138:p.Asp52His						p.D52H	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	154	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	52			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.154G>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781116	0.16120	.	.	ENSG00000221888	ENST00000408896	T	0.02944	4.1	2.83	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14960	0.0361	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	7.9739	0.30143	0.0:0.8783:0.0:0.1217	.	52	Q15619	OR1C1_HUMAN	H	52	ENSP00000386138:D52H	ENSP00000386138:D52H	D	-	1	0	OR1C1	245988178	0.002000	0.14202	0.060000	0.19600	0.029000	0.11900	0.483000	0.22292	1.576000	0.49790	0.585000	0.79938	GAC		0.473	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			3	49	0	0	0	0.004672	0	3	49				
NEBL	10529	broad.mit.edu	37	10	21115407	21115407	+	Missense_Mutation	SNP	C	C	T	rs151035799	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr10:21115407C>T	ENST00000377122.4	-	18	2234	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	613					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.R613L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCTTCACTCGTTCGATCTC	0.323													C|||	7	0.00139776	0.0053	0.0	5008	,	,		16997	0.0		0.0	False		,,,				2504	0.0						uc001iqi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1837-1839)CGA>CAA		nebulette sarcomeric isoform		C	,GLN/ARG,	13,4393	20.2+/-43.8	0,13,2190	171.0	185.0	180.0		,1838,	5.2	1.0	10	dbSNP_134	180	0,8600		0,0,4300	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,43,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,probably-damaging,	,613/1015,	21115407	13,12993	2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21115407C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1838G>A	10.37:g.21115407C>T	ENSP00000366326:p.Arg613Gln					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.R613Q	NM_006393	NP_006384	O76041	NEBL_HUMAN			18	2235	-			613			Nebulin 17.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1838G>A	CCDS7134.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	23.2	4.388076	0.82902	0.002951	0.0	ENSG00000078114	ENST00000377122	T	0.49720	0.77	6.06	5.16	0.70880	.	0.147641	0.45606	D	0.000360	T	0.66684	0.2814	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.75714	-0.3221	10	0.44086	T	0.13	.	15.0012	0.71473	0.0:0.9315:0.0:0.0685	.	613	O76041	NEBL_HUMAN	Q	613	ENSP00000366326:R613Q	ENSP00000366326:R613Q	R	-	2	0	NEBL	21155413	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.157000	0.71846	1.575000	0.49775	-0.136000	0.14681	CGA		0.323	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		5	167	0	0	0	0.00308	0	5	167				
HERC4	26091	broad.mit.edu	37	10	69684945	69684945	+	Splice_Site	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr10:69684945C>G	ENST00000395198.3	-	25	3110		c.e25-1		HERC4_ENST00000412272.2_Splice_Site|HERC4_ENST00000395187.2_Splice_Site|HERC4_ENST00000277817.6_Splice_Site|HERC4_ENST00000373700.4_Splice_Site	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ATTCTGTATTCTAAAAACAAC	0.328																																							uc001jng.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.e25-1		hect domain and RLD 4 isoform a							72.0	73.0	73.0					10																	69684945		2203	4296	6499	SO:0001630	splice_region_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69684945C>G	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2863-1G>C	10.37:g.69684945C>G						HERC4_uc009xpq.2_Splice_Site_p.N487_splice|HERC4_uc001jnf.3_Splice_Site|HERC4_uc001jnh.3_Splice_Site_p.N947_splice|HERC4_uc009xpr.2_Splice_Site_p.N877_splice|HERC4_uc001jni.3_Splice_Site_p.N691_splice	p.N955_splice	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			25	3174	-								Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Splice_Site	SNP	ENST00000395198.3	37	c.2863_splice	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793549	0.90453	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6038	0.95573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC4	69354951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.749000	0.85096	2.620000	0.88729	0.561000	0.74099	.		0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	Intron	11	22	0	0	0	0.008291	0	11	22				
C10orf90	118611	broad.mit.edu	37	10	128193347	128193347	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr10:128193347G>C	ENST00000284694.7	-	3	542	c.422C>G	c.(421-423)aCc>aGc	p.T141S	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.T94S|C10orf90_ENST00000356858.3_Missense_Mutation_p.T94S|C10orf90_ENST00000454341.1_Missense_Mutation_p.T141S|C10orf90_ENST00000544758.1_Missense_Mutation_p.T238S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	141	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGCCGTGATGGTGATGGATGC	0.677											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ljq.2		NA																	0				ovary(1)|skin(1)	2						c.(421-423)ACC>AGC		hypothetical protein LOC118611							28.0	33.0	32.0					10																	128193347		2188	4284	6472	SO:0001583	missense	118611							g.chr10:128193347G>C	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.422C>G	10.37:g.128193347G>C	ENSP00000284694:p.Thr141Ser		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.T94S|C10orf90_uc010qum.1_Missense_Mutation_p.T238S|C10orf90_uc009yao.2_Missense_Mutation_p.T238S|C10orf90_uc001ljs.1_Missense_Mutation_p.T94S	p.T141S	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	543	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	141					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.422C>G	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873185	0.72180	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.49139	1.07;1.01;1.22;1.09;0.79	5.1	4.18	0.49190	.	0.108387	0.41712	N	0.000832	T	0.54615	0.1869	M	0.65498	2.005	0.34812	D	0.737858	P;P;P;P;P	0.51537	0.923;0.946;0.897;0.946;0.923	P;P;P;P;P	0.48089	0.548;0.487;0.566;0.487;0.548	T	0.72228	-0.4354	10	0.87932	D	0	-22.2358	14.9646	0.71182	0.0:0.1546:0.8454:0.0	.	238;238;94;141;141	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	S	94;141;141;238;141;94;94	ENSP00000284694:T141S;ENSP00000398786:T141S;ENSP00000444369:T238S;ENSP00000405995:T141S;ENSP00000376459:T94S	ENSP00000284694:T141S	T	-	2	0	C10orf90	128183337	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.351000	0.52232	1.330000	0.45394	0.655000	0.94253	ACC		0.677	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		8	52	0	0	0	0.006214	0	8	52				
IGSF22	283284	broad.mit.edu	37	11	18743148	18743148	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr11:18743148G>A	ENST00000513874.1	-	4	451	c.312C>T	c.(310-312)agC>agT	p.S104S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	104	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGGGGATGCCGCTCTCCCTCT	0.592											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(310-312)AGC>AGT		immunoglobulin superfamily, member 22							117.0	120.0	119.0					11																	18743148		1997	4151	6148	SO:0001819	synonymous_variant	283284							g.chr11:18743148G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.312C>T	11.37:g.18743148G>A			OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	IGSF22_uc001mpa.2_RNA	p.S104S	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			4	502	-			104			Ig-like 1.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.312C>T	CCDS41625.2																																																																																				0.592	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	136	0	0	0	0.014758	0	4	136				
ITGA5	3678	broad.mit.edu	37	12	54797513	54797513	+	Missense_Mutation	SNP	G	G	A	rs143754928	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr12:54797513G>A	ENST00000293379.4	-	17	1933	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	558					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTGCCCGCCGTACCCCTCCC	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		17657	0.0		0.002	False		,,,				2504	0.0						uc001sga.2		NA																	0				ovary(2)	2						c.(1672-1674)CGG>TGG		integrin alpha 5 precursor							77.0	71.0	73.0					12																	54797513		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797513G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1672C>T	12.37:g.54797513G>A	ENSP00000293379:p.Arg558Trp						p.R558W	NM_002205	NP_002196	P08648	ITA5_HUMAN			17	1740	-			558			Extracellular (Potential).		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1672C>T	CCDS8880.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	21.1	4.097860	0.76870	.	.	ENSG00000161638	ENST00000293379	T	0.49432	0.78	5.22	3.23	0.37069	Integrin alpha-2 (1);	0.098404	0.64402	D	0.000004	T	0.66046	0.2750	M	0.78916	2.43	0.39162	D	0.962421	D	0.89917	1.0	D	0.79108	0.992	T	0.72010	-0.4419	10	0.87932	D	0	.	10.8543	0.46789	0.0:0.0:0.533:0.467	.	558	P08648	ITA5_HUMAN	W	558	ENSP00000293379:R558W	ENSP00000293379:R558W	R	-	1	2	ITGA5	53083780	1.000000	0.71417	0.848000	0.33437	0.979000	0.70002	3.355000	0.52262	1.321000	0.45227	0.561000	0.74099	CGG		0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			10	56	0	0	0	0.00499	0	10	56				
SLC26A10	65012	broad.mit.edu	37	12	58016853	58016853	+	Missense_Mutation	SNP	C	C	G	rs146951916		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr12:58016853C>G	ENST00000320442.4	+	7	1297	c.986C>G	c.(985-987)tCt>tGt	p.S329C	SLC26A10_ENST00000379218.2_Missense_Mutation_p.S329C	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	329						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCTCTTCTCTTGCTTTCCC	0.537																																							uc001spe.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(985-987)TCT>TGT		solute carrier family 26, member 10		C	CYS/SER	1,4405		0,1,2202	260.0	232.0	241.0		986	3.7	1.0	12	dbSNP_134	241	0,8600		0,0,4300	no	missense	SLC26A10	NM_133489.2	112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	329/564	58016853	1,13005	2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58016853C>G		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.986C>G	12.37:g.58016853C>G	ENSP00000320217:p.Ser329Cys					SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	p.S329C	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			7	1297	+	Melanoma(17;0.122)		329					A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.986C>G	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	20.6	4.011440	0.75046	2.27E-4	0.0	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.93859	-3.3;-3.3	3.65	3.65	0.41850	Sulphate transporter (1);	.	.	.	.	D	0.96516	0.8863	M	0.84683	2.71	0.39520	D	0.968501	D	0.89917	1.0	D	0.75484	0.986	D	0.97131	0.9818	9	0.66056	D	0.02	.	13.6831	0.62499	0.0:1.0:0.0:0.0	.	329	Q8NG04	S2610_HUMAN	C	329	ENSP00000320217:S329C;ENSP00000368520:S329C	ENSP00000320217:S329C	S	+	2	0	SLC26A10	56303120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.813000	0.55636	2.334000	0.79466	0.563000	0.77884	TCT		0.537	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			4	284	0	0	0	0.014758	0	4	284				
PPFIA2	8499	broad.mit.edu	37	12	81688716	81688716	+	Silent	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr12:81688716T>C	ENST00000549396.1	-	24	2983	c.2823A>G	c.(2821-2823)agA>agG	p.R941R	PPFIA2_ENST00000552948.1_Silent_p.R941R|PPFIA2_ENST00000333447.7_Silent_p.R926R|PPFIA2_ENST00000550359.2_Silent_p.R788R|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Silent_p.R867R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.R158R|PPFIA2_ENST00000549325.1_Silent_p.R926R|PPFIA2_ENST00000541570.2_Silent_p.R508R|PPFIA2_ENST00000548586.1_Silent_p.R941R|PPFIA2_ENST00000550584.2_Silent_p.R941R|PPFIA2_ENST00000443686.3_Silent_p.R842R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	941	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCCAATTTCTCTCTGGATCT	0.493																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2821-2823)AGA>AGG		PTPRF interacting protein alpha 2							116.0	114.0	114.0					12																	81688716		2079	4247	6326	SO:0001819	synonymous_variant	8499							g.chr12:81688716T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2823A>G	12.37:g.81688716T>C						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.R941R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2984	-			867					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2823A>G	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.71|10.71	1.427955|1.427955	0.25726|0.25726	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000551147	.|T	.|0.50548	.|0.74	5.62|5.62	3.27|3.27	0.37495|0.37495	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48241|0.48241	0.1489|0.1489	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30621|0.30621	-0.9972|-0.9972	4|6	.|.	.|.	.|.	-14.8682|-14.8682	7.8683|7.8683	0.29549|0.29549	0.0:0.2294:0.0:0.7706|0.0:0.2294:0.0:0.7706	.|.	.|.	.|.	.|.	G|G	75|107	.|ENSP00000449524:R107G	.|.	E|R	-|-	2|1	0|2	PPFIA2|PPFIA2	80212847|80212847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.088000|2.088000	0.41663|0.41663	0.435000|0.435000	0.26365|0.26365	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.493	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			5	32	0	0	0	0.014758	0	5	32				
DACT1	51339	broad.mit.edu	37	14	59113480	59113480	+	Silent	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr14:59113480C>T	ENST00000335867.4	+	4	2163	c.2139C>T	c.(2137-2139)taC>taT	p.Y713Y	DACT1_ENST00000395153.3_Silent_p.Y676Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000541264.2_Silent_p.Y432Y			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTCTGCCCTACGCCAGCCCCT	0.672																																							uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2137-2139)TAC>TAT		dapper 1 isoform 1							33.0	36.0	35.0					14																	59113480		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113480C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2139C>T	14.37:g.59113480C>T						DACT1_uc010trv.1_Silent_p.Y432Y|DACT1_uc001xdx.2_Silent_p.Y676Y|DACT1_uc010trw.1_Silent_p.Y432Y	p.Y713Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2303	+			713					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2139C>T	CCDS9736.1																																																																																				0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		47	40	0	0	0	0.01441	0	47	40				
DMXL2	23312	broad.mit.edu	37	15	51791717	51791717	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr15:51791717G>T	ENST00000251076.5	-	18	3991	c.3704C>A	c.(3703-3705)tCt>tAt	p.S1235Y	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1235Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1235						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAAGTCTATAGATCTAAGAAG	0.423																																							uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(3703-3705)TCT>TAT		Dmx-like 2							186.0	160.0	169.0					15																	51791717		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791717G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3704C>A	15.37:g.51791717G>T	ENSP00000251076:p.Ser1235Tyr					DMXL2_uc010ufy.1_Missense_Mutation_p.S1235Y|DMXL2_uc010bfa.2_Intron	p.S1235Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3929	-			1235					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3704C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171119	0.57584	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.23754	1.89;1.89	5.61	5.61	0.85477	.	0.163583	0.56097	D	0.000026	T	0.49423	0.1556	L	0.61218	1.895	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63957	0.92;0.822	T	0.46247	-0.9205	10	0.72032	D	0.01	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	1235;1235	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	Y	1235	ENSP00000251076:S1235Y;ENSP00000441858:S1235Y	ENSP00000251076:S1235Y	S	-	2	0	DMXL2	49579009	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	9.441000	0.97557	2.645000	0.89757	0.591000	0.81541	TCT		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	102	1	0	5.4927e-09	0.004482	5.87339e-09	7	102				
MAPK6	5597	broad.mit.edu	37	15	52356644	52356644	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr15:52356644G>C	ENST00000261845.5	+	6	2420	c.1613G>C	c.(1612-1614)aGt>aCt	p.S538T	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	538					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ATTCAGCTTAGTTCCCAGCAT	0.383																																							uc002abp.2		NA																	0				lung(3)|ovary(1)	4						c.(1612-1614)AGT>ACT		mitogen-activated protein kinase 6																																				SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356644G>C	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1613G>C	15.37:g.52356644G>C	ENSP00000261845:p.Ser538Thr						p.S538T	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2407	+			538					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.1613G>C	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366315	0.61513	.	.	ENSG00000069956	ENST00000261845	T	0.75589	-0.95	5.27	5.27	0.74061	.	0.071820	0.85682	D	0.000000	T	0.79311	0.4424	L	0.29908	0.895	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.80968	-0.1145	10	0.59425	D	0.04	-16.9875	19.0679	0.93119	0.0:0.0:1.0:0.0	.	538	Q16659	MK06_HUMAN	T	538	ENSP00000261845:S538T	ENSP00000261845:S538T	S	+	2	0	MAPK6	50143936	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.601000	0.98297	2.537000	0.85549	0.543000	0.68304	AGT		0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		10	12	0	0	0	0.010729	0	10	12				
GOLGA6A	342096	broad.mit.edu	37	15	74368296	74368296	+	Missense_Mutation	SNP	G	G	A	rs542174200	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr15:74368296G>A	ENST00000290438.3	-	8	635	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	199						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGTAACCACCGCTGGAGGACC	0.572													a|||	5	0.000998403	0.0	0.0	5008	,	,		25968	0.0		0.005	False		,,,				2504	0.0						uc002axa.1		NA																	0					0						c.(595-597)CGG>TGG		golgi autoantigen, golgin subfamily a, 6							83.0	100.0	94.0					15																	74368296		2129	4267	6396	SO:0001583	missense	342096							g.chr15:74368296G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.595C>T	15.37:g.74368296G>A	ENSP00000290438:p.Arg199Trp						p.R199W	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			8	636	-			199			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.595C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	g	4.080	0.012757	0.07912	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	1.51	-3.03	0.05429	.	.	.	.	.	T	0.14141	0.0342	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	9	0.29301	T	0.29	.	7.8951	0.29702	0.3992:0.0:0.6008:0.0	.	199	Q9NYA3	GOG6A_HUMAN	W	199	ENSP00000290438:R199W	ENSP00000290438:R199W	R	-	1	2	GOLGA6A	72155349	0.033000	0.19621	0.000000	0.03702	0.015000	0.08874	0.582000	0.23834	-1.064000	0.03172	-1.713000	0.00713	CGG		0.572	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		4	97	0	0	0	0.014758	0	4	97				
SLC6A2	6530	broad.mit.edu	37	16	55719074	55719074	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr16:55719074C>G	ENST00000379906.2	+	4	919	c.664C>G	c.(664-666)Cac>Gac	p.H222D	SLC6A2_ENST00000568943.1_Missense_Mutation_p.H222D|SLC6A2_ENST00000219833.8_Missense_Mutation_p.H222D|SLC6A2_ENST00000414754.3_Missense_Mutation_p.H222D|SLC6A2_ENST00000566163.1_Missense_Mutation_p.H222D|SLC6A2_ENST00000567238.1_Missense_Mutation_p.H117D|SLC6A2_ENST00000561820.1_Missense_Mutation_p.H222D	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	222					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCTGCACCTTCACGAGAGCAG	0.597																																							uc002eif.2		NA																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(664-666)CAC>GAC		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						117.0	101.0	106.0					16																	55719074		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719074C>G		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.664C>G	16.37:g.55719074C>G	ENSP00000369237:p.His222Asp					SLC6A2_uc010ccd.2_Missense_Mutation_p.H222D|SLC6A2_uc002eig.2_Missense_Mutation_p.H222D|SLC6A2_uc002eih.2_Missense_Mutation_p.H222D|SLC6A2_uc002eii.2_Missense_Mutation_p.H117D|SLC6A2_uc002eij.2_5'UTR	p.H222D	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	5	775	+			222			Extracellular (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.664C>G	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	8.335	0.827400	0.16749	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73258	-0.73;-0.73;-0.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.61703	1.905	0.80722	D	1	B;B;B	0.27068	0.167;0.045;0.167	B;B;B	0.30572	0.117;0.117;0.117	T	0.69480	-0.5134	10	0.56958	D	0.05	.	14.9957	0.71431	0.1432:0.8568:0.0:0.0	.	222;117;222	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	D	222	ENSP00000394956:H222D;ENSP00000369237:H222D;ENSP00000219833:H222D	ENSP00000219833:H222D	H	+	1	0	SLC6A2	54276575	1.000000	0.71417	0.216000	0.23742	0.063000	0.16089	5.661000	0.68025	2.679000	0.91253	0.655000	0.94253	CAC		0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			4	37	0	0	0	0.014758	0	4	37				
NFAT5	10725	broad.mit.edu	37	16	69693761	69693761	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr16:69693761C>G	ENST00000354436.2	+	6	1592	c.1274C>G	c.(1273-1275)tCc>tGc	p.S425C	NFAT5_ENST00000432919.1_Missense_Mutation_p.S443C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S349C|NFAT5_ENST00000349945.1_Missense_Mutation_p.S349C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S443C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S349C	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	425	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAAGATGGCTCCACTTTGACA	0.388																																							uc002exm.1		NA																	0					0						c.(1273-1275)TCC>TGC		nuclear factor of activated T-cells 5 isoform c							153.0	150.0	151.0					16																	69693761		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69693761C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1274C>G	16.37:g.69693761C>G	ENSP00000346420:p.Ser425Cys					NFAT5_uc002exh.1_Missense_Mutation_p.S219C|NFAT5_uc002exi.2_Missense_Mutation_p.S349C|NFAT5_uc002exj.1_Missense_Mutation_p.S349C|NFAT5_uc002exk.1_Missense_Mutation_p.S349C|NFAT5_uc002exl.1_Missense_Mutation_p.S443C|NFAT5_uc002exn.1_Missense_Mutation_p.S443C	p.S425C	NM_006599	NP_006590	O94916	NFAT5_HUMAN			6	2482	+			425			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1274C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312950	0.81358	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.85	4.85	0.62838	Rel homology (2);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.65815	0.994;0.995;0.988;0.982	D;P;P;P	0.63113	0.911;0.893;0.843;0.683	T	0.55623	-0.8112	10	0.46703	T	0.11	.	17.9382	0.89019	0.0:1.0:0.0:0.0	.	443;425;443;349	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	C	443;443;349;425;349	ENSP00000396538:S443C;ENSP00000338806:S349C;ENSP00000346420:S425C;ENSP00000377343:S349C	ENSP00000338806:S349C	S	+	2	0	NFAT5	68251262	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.790000	0.85794	2.243000	0.73865	0.305000	0.20034	TCC		0.388	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		14	102	0	0	0	0.007413	0	14	102				
DHX38	9785	broad.mit.edu	37	16	72132853	72132853	+	Silent	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr16:72132853C>T	ENST00000268482.3	+	6	1301	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	264					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACTCGGATGACACGCCTCTGC	0.587																																					Melanoma(97;711 1442 7855 13832 28836)	Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	0				skin(1)	1						c.(790-792)GAC>GAT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							58.0	57.0	57.0					16																	72132853		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72132853C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.792C>T	16.37:g.72132853C>T						DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	p.D264D	NM_014003	NP_054722	Q92620	PRP16_HUMAN			6	1147	+		Ovarian(137;0.125)	264					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.792C>T	CCDS10907.1																																																																																				0.587	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		5	30	0	0	0	0.001168	0	5	30				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	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		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7578263G>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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	29	0	0	0	0.01892	0	18	29				
KIAA0100	9703	broad.mit.edu	37	17	26951367	26951367	+	Missense_Mutation	SNP	A	A	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:26951367A>T	ENST00000528896.2	-	25	4710	c.4636T>A	c.(4636-4638)Ttt>Att	p.F1546I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.F1403I|KIAA0100_ENST00000544884.1_Missense_Mutation_p.F1403I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1546				F -> L (in Ref. 4; CAI45940). {ECO:0000305}.		extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACACTACAAACCTATCTGTC	0.458																																							uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(4636-4638)TTT>ATT		hypothetical protein LOC9703 precursor							176.0	147.0	157.0					17																	26951367		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26951367A>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4636T>A	17.37:g.26951367A>T	ENSP00000436773:p.Phe1546Ile					KIAA0100_uc002hbt.2_5'Flank	p.F1546I	NM_014680	NP_055495	Q14667	K0100_HUMAN			25	4735	-	Lung NSC(42;0.00431)		1546	F -> L (in Ref. 4; CAI45940).				A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.4636T>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651531	0.67472	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25749	1.78;1.79	5.44	4.34	0.51931	.	0.050804	0.85682	D	0.000000	T	0.27524	0.0676	M	0.66939	2.045	0.80722	D	1	B	0.28233	0.204	B	0.28385	0.089	T	0.03453	-1.1035	10	0.21014	T	0.42	.	12.7919	0.57539	0.8631:0.1369:0.0:0.0	.	1546	Q14667	K0100_HUMAN	I	1546;1516;1546;1403	ENSP00000436773:F1546I;ENSP00000446443:F1403I	ENSP00000005905:F1546I	F	-	1	0	KIAA0100	23975494	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.800000	0.91900	0.977000	0.38444	0.402000	0.26972	TTT		0.458	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		23	61	0	0	0	0.014323	0	23	61				
TADA2A	6871	broad.mit.edu	37	17	35830541	35830541	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:35830541G>A	ENST00000394395.2	+	13	1106	c.933G>A	c.(931-933)gaG>gaA	p.E311E	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.E311E	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	311					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AGACACGGGAGGAAGAGCGCC	0.517																																							uc002hnt.2		NA																	0				breast(3)|skin(1)	4						c.(931-933)GAG>GAA		transcriptional adaptor 2A isoform a							139.0	131.0	134.0					17																	35830541		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830541G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.933G>A	17.37:g.35830541G>A						TADA2A_uc002hnv.2_Silent_p.E311E|TADA2A_uc002hnw.2_Silent_p.E210E|TADA2A_uc010cvb.2_Silent_p.E107E	p.E311E	NM_001488	NP_001479	O75478	TAD2A_HUMAN			13	1090	+			311					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.933G>A	CCDS11319.1																																																																																				0.517	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		27	149	0	0	0	0.007291	0	27	149				
MED1	5469	broad.mit.edu	37	17	37565808	37565808	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:37565808C>G	ENST00000300651.6	-	17	2889	c.2666G>C	c.(2665-2667)aGt>aCt	p.S889T	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTATCCCCACTTTGGCTGCT	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(2665-2667)AGT>ACT		mediator complex subunit 1							121.0	123.0	123.0					17																	37565808		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565808C>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2666G>C	17.37:g.37565808C>G	ENSP00000300651:p.Ser889Thr	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S717T|MED1_uc002hru.2_Intron	p.S889T	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2878	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	889			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2666G>C	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443268	0.63067	.	.	ENSG00000125686	ENST00000300651	T	0.45668	0.89	6.17	6.17	0.99709	.	.	.	.	.	T	0.49558	0.1564	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	P	0.57548	0.823	T	0.25293	-1.0136	9	0.33940	T	0.23	-10.021	20.8794	0.99867	0.0:1.0:0.0:0.0	.	889	Q15648	MED1_HUMAN	T	889	ENSP00000300651:S889T	ENSP00000300651:S889T	S	-	2	0	MED1	34819334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.584000	0.82572	2.941000	0.99782	0.655000	0.94253	AGT		0.398	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		48	207	0	0	0	0.01441	0	48	207				
EZH1	2145	broad.mit.edu	37	17	40855782	40855782	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:40855782C>A	ENST00000428826.2	-	19	2195	c.2074G>T	c.(2074-2076)Gtg>Ttg	p.V692L	EZH1_ENST00000415827.2_Missense_Mutation_p.V683L|EZH1_ENST00000590078.1_Missense_Mutation_p.V622L|EZH1_ENST00000435174.1_Missense_Mutation_p.V553L|EZH1_ENST00000585893.1_Missense_Mutation_p.V652L|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000592743.1_Missense_Mutation_p.V692L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	692	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGGGATTCACTGAATGATTT	0.423																																							uc002iaz.2		NA																	0				ovary(3)	3						c.(2074-2076)GTG>TTG		enhancer of zeste homolog 1							175.0	143.0	154.0					17																	40855782		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40855782C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2074G>T	17.37:g.40855782C>A	ENSP00000404658:p.Val692Leu					EZH1_uc002iba.2_Missense_Mutation_p.V683L|EZH1_uc010wgt.1_Missense_Mutation_p.V622L|EZH1_uc010wgu.1_Missense_Mutation_p.V698L|EZH1_uc010wgv.1_Missense_Mutation_p.V652L|EZH1_uc010wgw.1_Missense_Mutation_p.V553L|EZH1_uc010cyp.2_Missense_Mutation_p.V593L|EZH1_uc010cyq.2_Missense_Mutation_p.V609L|EZH1_uc010cyo.1_Missense_Mutation_p.V355L	p.V692L	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	19	2219	-		Breast(137;0.00104)	692			SET.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.2074G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081318	0.76528	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.79940	-1.32;-1.32	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	N	0.25890	0.77	0.80722	D	1	B;B;B;B;B	0.30664	0.289;0.022;0.022;0.022;0.027	B;B;B;B;B	0.33799	0.17;0.049;0.049;0.049;0.082	T	0.69595	-0.5103	10	0.31617	T	0.26	.	19.4844	0.95024	0.0:1.0:0.0:0.0	.	553;652;698;622;692	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	L	695;692;652;553	ENSP00000404658:V692L;ENSP00000404071:V553L	ENSP00000264646:V695L	V	-	1	0	EZH1	38109308	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.651000	0.83577	2.838000	0.97847	0.563000	0.77884	GTG		0.423	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		10	90	1	0	7.03913e-09	0.013537	7.45319e-09	10	90				
SLC39A11	201266	broad.mit.edu	37	17	71027795	71027795	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:71027795G>A	ENST00000542342.2	-	4	294	c.206C>T	c.(205-207)tCc>tTc	p.S69F	SLC39A11_ENST00000579732.1_Missense_Mutation_p.S69F|SLC39A11_ENST00000255559.3_Missense_Mutation_p.S69F	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	69					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCCCCCAGAGGACGTGGCCAT	0.532																																					NSCLC(95;736 1527 12296 39625 41839)	NSCLC(95;736 1527 12296 39625 41839)	uc002jjb.2		NA																	0				ovary(1)	1						c.(205-207)TCC>TTC		solute carrier family 39, member 11 isoform 1							123.0	110.0	114.0					17																	71027795		2203	4300	6503	SO:0001583	missense	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:71027795G>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.206C>T	17.37:g.71027795G>A	ENSP00000445829:p.Ser69Phe					SLC39A11_uc002jja.2_Missense_Mutation_p.S69F|SLC39A11_uc002jjc.1_Missense_Mutation_p.S69F	p.S69F	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN			4	321	-			69					B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	c.206C>T	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684924	0.47991	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.52057	0.68;0.68	5.09	5.09	0.68999	.	0.343553	0.30028	N	0.010585	T	0.57888	0.2084	L	0.58354	1.805	0.42008	D	0.990924	P;P	0.48834	0.916;0.905	P;P	0.56343	0.796;0.521	T	0.61128	-0.7125	10	0.66056	D	0.02	.	11.1487	0.48444	0.0:0.0:0.7108:0.2892	.	69;69	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	F	69	ENSP00000445829:S69F;ENSP00000255559:S69F	ENSP00000255559:S69F	S	-	2	0	SLC39A11	68539390	1.000000	0.71417	0.556000	0.28293	0.241000	0.25554	3.146000	0.50631	2.372000	0.80975	0.655000	0.94253	TCC		0.532	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			25	33	0	0	0	0.005443	0	25	33				
CARD14	79092	broad.mit.edu	37	17	78171948	78171948	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr17:78171948G>C	ENST00000573882.1	+	14	2181	c.1645G>C	c.(1645-1647)Gat>Cat	p.D549H	CARD14_ENST00000392434.2_Missense_Mutation_p.D312H|CARD14_ENST00000570421.1_Missense_Mutation_p.D549H|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.D549H			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	549					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAAGGCTTGATGTCTCGGA	0.602																																							uc002jxw.1		NA																	0				ovary(4)|skin(1)	5						c.(1645-1647)GAT>CAT		caspase recruitment domain protein 14 isoform 1							75.0	77.0	76.0					17																	78171948		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78171948G>C	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1645G>C	17.37:g.78171948G>C	ENSP00000458715:p.Asp549His					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.D549H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.D312H	p.D549H	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		12	1840	+	all_neural(118;0.0952)		549					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1645G>C	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	3.401	-0.122225	0.06795	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.25414	1.8;2.53	2.81	-3.68	0.04463	.	3.044380	0.00851	N	0.001825	T	0.15782	0.0380	L	0.36672	1.1	0.09310	N	1	B;B	0.29955	0.011;0.263	B;B	0.24394	0.008;0.053	T	0.05666	-1.0871	10	0.24483	T	0.36	-0.2983	1.505	0.02484	0.501:0.1202:0.1969:0.1819	.	312;549	E7ETJ2;Q9BXL6	.;CAR14_HUMAN	H	549;312;312	ENSP00000344549:D549H;ENSP00000376229:D312H	ENSP00000308507:D312H	D	+	1	0	CARD14	75786543	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.726000	0.04936	-0.944000	0.03686	0.467000	0.42956	GAT		0.602	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			3	126	0	0	0	0.001168	0	3	126				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																							uc002mtb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)CGT>CCT		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_uc010dym.1_Missense_Mutation_p.R290P	p.R447P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1483	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	61	0	0	0	0.009096	0	3	61				
CYP4F12	66002	broad.mit.edu	37	19	15795668	15795668	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:15795668G>C	ENST00000550308.1	+	8	1341	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.E321Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	321					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TATAAGAGCAGAGGCTGACAC	0.527																																							uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(961-963)GAG>CAG		cytochrome P450, family 4, subfamily F,							100.0	94.0	96.0					19																	15795668		2201	4300	6501	SO:0001583	missense	66002							g.chr19:15795668G>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.961G>C	19.37:g.15795668G>C	ENSP00000448998:p.Glu321Gln						p.E321Q	NM_023944	NP_076433					8	1022	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.961G>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634974	0.29068	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.58	2.58	0.30949	.	0.077529	0.49305	U	0.000148	T	0.78842	0.4347	M	0.75085	2.285	0.45272	D	0.998275	D	0.89917	1.0	D	0.91635	0.999	T	0.81344	-0.0975	10	0.87932	D	0	.	11.2806	0.49192	0.0:0.0:1.0:0.0	.	321	Q9HCS2	CP4FC_HUMAN	Q	321	ENSP00000448998:E321Q;ENSP00000321821:E321Q	ENSP00000321821:E321Q	E	+	1	0	CYP4F12	15656668	1.000000	0.71417	0.660000	0.29694	0.141000	0.21300	6.122000	0.71608	1.744000	0.51775	0.313000	0.20887	GAG		0.527	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			4	73	0	0	0	0.014758	0	4	73				
BCL3	602	broad.mit.edu	37	19	45262694	45262694	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:45262694C>T	ENST00000164227.5	+	9	1431	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	396	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGTCTTCTCTCCGCATCACCA	0.622			T	IGH@	CLL																																		uc010xxe.1		NA		Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		0				ovary(1)|lung(1)	2						c.(1186-1188)TCC>TTC		B-cell CLL/lymphoma 3							224.0	226.0	225.0					19																	45262694		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262694C>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1187C>T	19.37:g.45262694C>T	ENSP00000164227:p.Ser396Phe						p.S396F	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1257	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	396			Pro/Ser-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.1187C>T	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497293	0.44455	.	.	ENSG00000069399	ENST00000164227	T	0.40225	1.04	3.97	3.97	0.46021	.	0.593863	0.14164	N	0.337193	T	0.45074	0.1324	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.60682	0.878	T	0.24693	-1.0153	10	0.87932	D	0	-1.9238	10.0633	0.42288	0.0:0.7939:0.2061:0.0	.	396	P20749	BCL3_HUMAN	F	396	ENSP00000164227:S396F	ENSP00000164227:S396F	S	+	2	0	BCL3	49954534	0.059000	0.20769	0.023000	0.16930	0.698000	0.40448	4.041000	0.57339	1.913000	0.55393	0.491000	0.48974	TCC		0.622	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		21	310	0	0	0	0.004656	0	21	310				
ZNF615	284370	broad.mit.edu	37	19	52496695	52496695	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:52496695C>T	ENST00000602063.1	-	6	1983	c.1634G>A	c.(1633-1635)tGt>tAt	p.C545Y	ZNF615_ENST00000594083.1_Missense_Mutation_p.C556Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.C556Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.C550Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.C545Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	545					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCTTTTCCACACTCATTGCA	0.438																																							uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(1633-1635)TGT>TAT		zinc finger protein 615							115.0	101.0	106.0					19																	52496695		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496695C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1634G>A	19.37:g.52496695C>T	ENSP00000473089:p.Cys545Tyr					ZNF615_uc002pyf.1_Missense_Mutation_p.C556Y|ZNF615_uc002pyg.1_Missense_Mutation_p.C437Y|ZNF615_uc002pyh.1_Missense_Mutation_p.C556Y|ZNF615_uc010epi.1_Missense_Mutation_p.C552Y|ZNF615_uc010ydg.1_Missense_Mutation_p.C550Y	p.C545Y	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1926	-		all_neural(266;0.117)	545			C2H2-type 13.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1634G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414241	0.62511	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795	D;D	0.85861	-2.04;-2.04	3.17	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93651	0.7972	M	0.93978	3.48	0.42019	D	0.990973	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95132	0.8256	9	0.72032	D	0.01	.	13.5958	0.61988	0.0:1.0:0.0:0.0	.	550;552;556;545	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Y	545;555;550	ENSP00000365906:C545Y;ENSP00000375672:C550Y	ENSP00000347019:C555Y	C	-	2	0	ZNF615	57188507	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	6.630000	0.74272	1.752000	0.51891	0.655000	0.94253	TGT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		11	94	0	0	0	0.013537	0	11	94				
BRSK1	84446	broad.mit.edu	37	19	55814114	55814114	+	Missense_Mutation	SNP	C	C	T	rs144130246		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:55814114C>T	ENST00000309383.1	+	10	1184	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	BRSK1_ENST00000590333.1_Missense_Mutation_p.R319W|BRSK1_ENST00000326848.7_5'UTR|BRSK1_ENST00000585418.1_Missense_Mutation_p.R303W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	303			R -> W (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R303W(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTGGCCGCCGGGTAGCCAT	0.632																																							uc002qkg.2		NA																	3	Substitution - Missense(3)	p.R303W(1)	lung(2)|stomach(1)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(907-909)CGG>TGG		BR serine/threonine kinase 1		C	TRP/ARG	0,4406		0,0,2203	41.0	44.0	43.0		907	1.0	1.0	19	dbSNP_134	43	1,8597		0,1,4298	no	missense	BRSK1	NM_032430.1	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	303/779	55814114	1,13003	2203	4299	6502	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814114C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.907C>T	19.37:g.55814114C>T	ENSP00000310649:p.Arg303Trp					BRSK1_uc002qkf.2_Missense_Mutation_p.R319W|BRSK1_uc002qkh.2_5'UTR	p.R303W	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1184	+		Renal(1328;0.245)	303		R -> W (in a gastric adenocarcinoma sample; somatic mutation).			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.907C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.766627	0.49574	0.0	1.16E-4	ENSG00000160469	ENST00000309383	T	0.72835	-0.69	4.68	1.01	0.19927	Protein kinase-like domain (1);	0.177472	0.34156	N	0.004205	T	0.78755	0.4333	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.96;0.982	T	0.79230	-0.1889	10	0.66056	D	0.02	.	12.6089	0.56540	0.7423:0.2577:0.0:0.0	.	303;319	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	303	ENSP00000310649:R303W	ENSP00000310649:R303W	R	+	1	2	BRSK1	60505926	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.965000	0.40471	0.426000	0.26116	0.650000	0.86243	CGG		0.632	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		4	49	0	0	0	0.014758	0	4	49				
C2orf16	84226	broad.mit.edu	37	2	27804634	27804634	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr2:27804634G>A	ENST00000408964.2	+	1	5246	c.5195G>A	c.(5194-5196)aGa>aAa	p.R1732K	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1732	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCAGAGAGAAGCCATCAC	0.562																																							uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5194-5196)AGA>AAA		hypothetical protein LOC84226							182.0	187.0	186.0					2																	27804634		1937	4132	6069	SO:0001583	missense	84226							g.chr2:27804634G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5195G>A	2.37:g.27804634G>A	ENSP00000386190:p.Arg1732Lys					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.R1732K	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5246	+	Acute lymphoblastic leukemia(172;0.155)		1732			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|13.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5195G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117424	0.37339	.	.	ENSG00000221843	ENST00000408964	T	0.05081	3.5	4.01	2.2	0.27929	.	.	.	.	.	T	0.07954	0.0199	M	0.63843	1.955	0.09310	N	1	P	0.42785	0.79	B	0.41666	0.363	T	0.26395	-1.0104	9	0.19147	T	0.46	.	7.132	0.25507	0.0945:0.0:0.7355:0.1699	.	1732	Q68DN1	CB016_HUMAN	K	1732	ENSP00000386190:R1732K	ENSP00000386190:R1732K	R	+	2	0	C2orf16	27658138	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.369000	0.07533	0.644000	0.30656	0.462000	0.41574	AGA		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		6	249	0	0	0	0.001168	0	6	249				
FAM98A	25940	broad.mit.edu	37	2	33817255	33817255	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr2:33817255G>T	ENST00000238823.8	-	3	369	c.229C>A	c.(229-231)Ctt>Att	p.L77I	FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000403368.1_Missense_Mutation_p.L77I			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	77							poly(A) RNA binding (GO:0044822)	p.L77I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCACCTCAAGCTGGAATTCT	0.383																																							uc002rpa.1		NA																	2	Substitution - Missense(2)	p.L77H(1)	endometrium(1)|kidney(1)	ovary(1)	1						c.(229-231)CTT>ATT		hypothetical protein LOC25940							146.0	142.0	144.0					2																	33817255		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33817255G>T		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.229C>A	2.37:g.33817255G>T	ENSP00000238823:p.Leu77Ile					FAM98A_uc010yne.1_5'UTR	p.L77I	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			3	303	-	all_hematologic(175;0.115)		77					B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.229C>A	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749212	0.96882	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.51325	0.71;0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.68728	2.09	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.65994	-0.6033	10	0.48119	T	0.1	-6.6931	20.6593	0.99626	0.0:0.0:1.0:0.0	.	77	Q8NCA5-2	.	I	77	ENSP00000238823:L77I;ENSP00000384711:L77I	ENSP00000238823:L77I	L	-	1	0	FAM98A	33670759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.885000	0.99019	0.655000	0.94253	CTT		0.383	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		7	179	1	0	1.06961e-07	0.00308	1.12154e-07	7	179				
ALMS1	7840	broad.mit.edu	37	2	73676583	73676583	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr2:73676583G>A	ENST00000264448.6	+	8	3037	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E934K|ALMS1_ENST00000377715.1_Missense_Mutation_p.E976K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	976	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTACCTAGAGAATCTCTGAA	0.463																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2932-2934)GAA>AAA		Alstrom syndrome 1							117.0	112.0	114.0					2																	73676583		1863	4113	5976	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676583G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2926G>A	2.37:g.73676583G>A	ENSP00000264448:p.Glu976Lys					ALMS1_uc002sjf.1_Missense_Mutation_p.E934K|ALMS1_uc002sjg.2_Missense_Mutation_p.E364K|ALMS1_uc002sjh.1_Missense_Mutation_p.E364K	p.E978K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3043	+			976			34 X 47 AA approximate tandem repeat.|10.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2932G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532443	0.45073	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13778	3.45;3.45;2.56	3.44	-1.07	0.09968	.	0.988254	0.08239	N	0.976369	T	0.19248	0.0462	L	0.47190	1.495	0.09310	N	1	P;P;P	0.52316	0.573;0.748;0.952	B;B;P	0.48815	0.199;0.237;0.591	T	0.38950	-0.9637	10	0.62326	D	0.03	.	12.8079	0.57624	0.0:0.6669:0.3331:0.0	.	976;934;976	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	934;976;976	ENSP00000386627:E934K;ENSP00000264448:E976K;ENSP00000366944:E976K	ENSP00000264448:E976K	E	+	1	0	ALMS1	73530091	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.809000	0.00756	-0.219000	0.10003	0.467000	0.42956	GAA		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		14	101	0	0	0	0.006122	0	14	101				
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	G	T	rs147779020		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr2:112777075G>T	ENST00000295408.4	+	16	2422	c.2165G>T	c.(2164-2166)cGa>cTa	p.R722L	MERTK_ENST00000421804.2_Missense_Mutation_p.R722L|MERTK_ENST00000409780.1_Missense_Mutation_p.R546L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463																																							uc002thk.1		NA																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2164-2166)CGA>CTA		MER receptor tyrosine kinase precursor							154.0	147.0	149.0					2																	112777075		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112777075G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2165G>T	2.37:g.112777075G>T	ENSP00000295408:p.Arg722Leu					MERTK_uc002thl.1_Missense_Mutation_p.R546L	p.R722L	NM_006343	NP_006334	Q12866	MERTK_HUMAN			16	2287	+			722			Protein kinase.|Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2165G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551740	0.96501	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29087	U	0.013191	D	0.89681	0.6785	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91468	0.5194	10	0.87932	D	0	-15.9013	19.5203	0.95182	0.0:0.0:1.0:0.0	.	722	Q12866	MERTK_HUMAN	L	722;722;358;546;29	ENSP00000295408:R722L;ENSP00000389152:R722L;ENSP00000387277:R546L;ENSP00000412660:R29L	ENSP00000295408:R722L	R	+	2	0	MERTK	112493546	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.756000	0.98918	2.678000	0.91216	0.655000	0.94253	CGA		0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			38	48	1	0	1.23103e-26	0.013114	1.37063e-26	38	48				
NEB	4703	broad.mit.edu	37	2	152363473	152363473	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr2:152363473C>T	ENST00000172853.10	-	135	18550	c.18403G>A	c.(18403-18405)Gac>Aac	p.D6135N	NEB_ENST00000397345.3_Missense_Mutation_p.D7836N|NEB_ENST00000603639.1_Missense_Mutation_p.D7836N|NEB_ENST00000427231.2_Missense_Mutation_p.D7836N|NEB_ENST00000604864.1_Missense_Mutation_p.D7836N|NEB_ENST00000409198.1_Missense_Mutation_p.D6135N|NEB_ENST00000509223.2_5'UTR|NEB_ENST00000498015.2_5'Flank			P20929	NEBU_HUMAN	nebulin	6135					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGCGTGTCTTGAACAACT	0.323																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(18403-18405)GAC>AAC		nebulin isoform 3							135.0	129.0	131.0					2																	152363473		1815	4068	5883	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152363473C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18403G>A	2.37:g.152363473C>T	ENSP00000172853:p.Asp6135Asn					NEB_uc002txr.2_Missense_Mutation_p.D2558N|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Missense_Mutation_p.D640N	p.D6135N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	135	18594	-			6135			Nebulin 168.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18403G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310811|4.310811	0.81358|0.81358	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000424585|ENST00000421461	T;T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.227064|.	0.50627|.	D|.	0.000102|.	T|T	0.76779|0.76779	0.4035|0.4035	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	B;B;D|.	0.59357|.	0.08;0.198;0.985|.	B;B;D|.	0.73708|.	0.074;0.155;0.981|.	T|T	0.73607|0.73607	-0.3929|-0.3929	10|5	0.48119|.	T|.	0.1|.	.|.	19.609|19.609	0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6135;7836;2566|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|K	6135;7836;7836;2184;2566;6135;63|12	ENSP00000386259:D6135N;ENSP00000380505:D7836N;ENSP00000416578:D7836N;ENSP00000410961:D2566N;ENSP00000172853:D6135N;ENSP00000404876:D63N|.	ENSP00000172853:D6135N|.	D|R	-|-	1|2	0|0	NEB|NEB	152071719|152071719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.482000|4.482000	0.60257|0.60257	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.323	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		20	32	0	0	0	0.007291	0	20	32				
CHD6	84181	broad.mit.edu	37	20	40049523	40049523	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr20:40049523C>G	ENST00000373233.3	-	31	5929	c.5752G>C	c.(5752-5754)Gag>Cag	p.E1918Q		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1918					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCCACCTCTAAGCTTCCT	0.542																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5752-5754)GAG>CAG		chromodomain helicase DNA binding protein 6							145.0	136.0	139.0					20																	40049523		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049523C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5752G>C	20.37:g.40049523C>G	ENSP00000362330:p.Glu1918Gln						p.E1918Q	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5930	-		Myeloproliferative disorder(115;0.00425)	1918					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5752G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.074925	0.20227	.	.	ENSG00000124177	ENST00000373233	D	0.86097	-2.07	5.86	5.86	0.93980	.	0.192865	0.36444	N	0.002592	D	0.83427	0.5252	L	0.57536	1.79	0.80722	D	1	B	0.31153	0.31	B	0.31016	0.123	T	0.79612	-0.1731	10	0.26408	T	0.33	-12.1257	18.3824	0.90455	0.0:1.0:0.0:0.0	.	1918	Q8TD26	CHD6_HUMAN	Q	1918	ENSP00000362330:E1918Q	ENSP00000362330:E1918Q	E	-	1	0	CHD6	39482937	0.331000	0.24713	0.070000	0.20053	0.025000	0.11179	4.591000	0.61019	2.776000	0.95493	0.655000	0.94253	GAG		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	89	0	0	0	0.014758	0	4	89				
ZNFX1	57169	broad.mit.edu	37	20	47887961	47887961	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr20:47887961G>C	ENST00000396105.1	-	3	634	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P130A|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P130A	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	130							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGGTGGGGAGTCCGCCAC	0.527																																							uc002xui.2		NA																	0				ovary(2)	2						c.(388-390)CCC>GCC		zinc finger, NFX1-type containing 1							147.0	139.0	142.0					20																	47887961		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887961G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.388C>G	20.37:g.47887961G>C	ENSP00000379412:p.Pro130Ala						p.P130A	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	635	-			130					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.388C>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	8.567	0.879164	0.17395	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.85861	-1.78;-2.04;-2.04;-0.7	5.97	5.03	0.67393	.	0.273246	0.32401	N	0.006149	T	0.80121	0.4565	L	0.56769	1.78	0.09310	N	1	B	0.20368	0.044	B	0.15870	0.014	T	0.62613	-0.6817	10	0.10636	T	0.68	-11.4556	12.0288	0.53386	0.0795:0.0:0.9205:0.0	.	130	Q9P2E3	ZNFX1_HUMAN	A	130	ENSP00000360819:P130A;ENSP00000360817:P130A;ENSP00000379412:P130A;ENSP00000360809:P130A	ENSP00000360809:P130A	P	-	1	0	ZNFX1	47321368	0.191000	0.23288	0.717000	0.30585	0.919000	0.55068	0.000000	0.12993	1.541000	0.49316	0.655000	0.94253	CCC		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	203	0	0	0	0.001168	0	5	203				
DOPEY2	9980	broad.mit.edu	37	21	37633010	37633010	+	Silent	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr21:37633010T>C	ENST00000399151.3	+	24	5380	c.5295T>C	c.(5293-5295)ttT>ttC	p.F1765F	snoU13_ENST00000459290.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1765					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTTGCAGTTTTGCTATGCTT	0.388																																							uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5293-5295)TTT>TTC		pad-1-like							188.0	177.0	181.0					21																	37633010		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37633010T>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5295T>C	21.37:g.37633010T>C						DOPEY2_uc011aeb.1_Silent_p.F1714F|DOPEY2_uc002yvh.2_Silent_p.F616F	p.F1765F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			24	5374	+			1765					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.5295T>C	CCDS13643.1																																																																																				0.388	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		63	143	0	0	0	0.01441	0	63	143				
PRDM15	63977	broad.mit.edu	37	21	43239971	43239971	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr21:43239971C>T	ENST00000269844.3	-	25	3435	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I	PRDM15_ENST00000422911.1_Missense_Mutation_p.V800I|PRDM15_ENST00000398548.1_Missense_Mutation_p.V780I|PRDM15_ENST00000447207.2_Missense_Mutation_p.V743I|PRDM15_ENST00000538201.1_Missense_Mutation_p.V763I	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TACTCGCGGACATTGTCGTGC	0.622																																							uc002yzq.1		NA																	0					0						c.(3325-3327)GTC>ATC		PR domain containing 15 isoform 1																																				SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43239971C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3325G>A	21.37:g.43239971C>T	ENSP00000269844:p.Val1109Ile					PRDM15_uc002yzo.2_Missense_Mutation_p.V780I|PRDM15_uc002yzp.2_Missense_Mutation_p.V800I|PRDM15_uc002yzr.1_Missense_Mutation_p.V800I	p.V1109I	NM_022115	NP_071398	P57071	PRD15_HUMAN			25	3436	-			1109					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3325G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	1.481	-0.557162	0.03967	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	4.73	3.58	0.41010	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.12527	0.23	0.21579	N	0.999637	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28618	-1.0038	9	0.38643	T	0.18	-27.2945	9.1236	0.36801	0.0:0.0898:0.0:0.9102	.	1109;800;780	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	I	800;780;763;743;1109	ENSP00000408592:V800I;ENSP00000381556:V780I;ENSP00000444044:V763I;ENSP00000390245:V743I;ENSP00000269844:V1109I	ENSP00000269844:V1109I	V	-	1	0	PRDM15	42113040	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	4.840000	0.62817	0.768000	0.33290	-0.482000	0.04802	GTC		0.622	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		20	36	0	0	0	0.021523	0	20	36				
DMC1	11144	broad.mit.edu	37	22	38934594	38934594	+	Missense_Mutation	SNP	C	C	A	rs374584727		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr22:38934594C>A	ENST00000216024.2	-	10	886	c.610G>T	c.(610-612)Gat>Tat	p.D204Y	DMC1_ENST00000428462.2_Missense_Mutation_p.D149Y	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	204					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCTACATAATCAAGTAGCTCC	0.363								Homologous recombination																															uc003avz.1		NA																	0				ovary(1)	1						c.(610-612)GAT>TAT	Homologous_recombination	DMC1 dosage suppressor of mck1 homolog							123.0	125.0	124.0					22																	38934594		2203	4300	6503	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38934594C>A	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.610G>T	22.37:g.38934594C>A	ENSP00000216024:p.Asp204Tyr					DMC1_uc011anv.1_Missense_Mutation_p.D149Y	p.D204Y	NM_007068	NP_008999	Q14565	DMC1_HUMAN			10	785	-	Melanoma(58;0.0286)		204					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.610G>T	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746924	0.89663	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567	T;T;T	0.67865	-0.29;-0.29;1.07	5.6	5.6	0.85130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	L	0.60904	1.88	0.44780	D	0.997784	P;P	0.48764	0.915;0.668	P;P	0.49477	0.612;0.504	T	0.72141	-0.4380	10	0.42905	T	0.14	-1.5229	19.6136	0.95619	0.0:1.0:0.0:0.0	.	149;204	B4DMW6;Q14565	.;DMC1_HUMAN	Y	204;149;149	ENSP00000216024:D204Y;ENSP00000412703:D149Y;ENSP00000391385:D149Y	ENSP00000216024:D204Y	D	-	1	0	DMC1	37264540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.641000	0.89580	0.585000	0.79938	GAT		0.363	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		4	146	1	0	0.00909568	0.009096	0.0092673	4	146				
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537252	42537252	+	RNA	SNP	G	G	A	rs2743457	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr22:42537252G>A	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000424775.1_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GCTGCACCTCGTGAATCACGG	0.587													g|||	1436	0.286741	0.2988	0.1571	5008	,	,		19573	0.5645		0.2028	False		,,,				2504	0.1626					GBM(91;329 1845 13264 22235)	uc003bci.2		NA																	0					0						c.(811-813)CAC>CAT		SubName: Full=Cytochrome P450 2D6;          EC=1.14.14.1;																																						1564							g.chr22:42537252G>A	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537252G>A						CYP2D7P1_uc003bcg.2_Silent_p.H15H|CYP2D7P1_uc003bch.2_Silent_p.H15H|CYP2D7P1_uc010gyv.2_Silent_p.H55H|CYP2D7P1_uc010gyw.2_RNA|CYP2D7P1_uc010gyx.1_3'UTR	p.H271H	NR_002570						7	1194	-									Silent	SNP	ENST00000416037.2	37	c.813C>T																																																																																					0.587	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		4	20	0	0	0	0.004482	0	4	20				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					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(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																							uc011axg.1		NA																	0				ovary(1)	1						c.(1474-1476)CGT>CAT		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His						p.R492H	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	2024	+			492			C2H2-type 10.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	109	0	0	0	0.014758	0	4	109				
SCN11A	11280	broad.mit.edu	37	3	38908865	38908865	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:38908865G>A	ENST00000302328.3	-	23	4096	c.3898C>T	c.(3898-3900)Ctg>Ttg	p.L1300L	SCN11A_ENST00000456224.3_Silent_p.L1262L|SCN11A_ENST00000444237.2_Silent_p.L1300L|SCN11A_ENST00000450244.1_Silent_p.L1300L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1300					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAGATTCAGAGTGAAGAAT	0.363																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(3898-3900)CTG>TTG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						151.0	143.0	146.0					3																	38908865		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38908865G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3898C>T	3.37:g.38908865G>A							p.L1300L	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	23	4097	-			1300			Helical; Name=S6 of repeat III; (By similarity).|III.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.3898C>T	CCDS33737.1																																																																																				0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		17	42	0	0	0	0.010504	0	17	42				
APEH	327	broad.mit.edu	37	3	49722464	49722464	+	IGR	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:49722464G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R535G|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R521G(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCACTGCCGGGCAGTCAGT	0.592																																						GBM(110;181 1524 8005 22865 46297)	uc003cxg.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1603-1605)CGG>GGG		macrophage stimulating 1 (hepatocyte growth							8.0	8.0	8.0					3																	49722464		2121	4165	6286	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49722464G>C	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722464G>C							p.R535G	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	14	1675	-			521			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1603C>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717706	0.48622	.	.	ENSG00000173531	ENST00000449682	D	0.92446	-3.04	4.8	4.8	0.61643	.	0.207615	0.24102	N	0.041522	D	0.85669	0.5750	N	0.03238	-0.38	0.80722	D	1	D	0.61697	0.99	P	0.50970	0.655	D	0.87882	0.2678	10	0.62326	D	0.03	.	12.2518	0.54601	0.0:0.0:0.8298:0.1702	.	535	G3XAK1	.	G	535	ENSP00000414287:R535G	ENSP00000414287:R535G	R	-	1	2	MST1	49697468	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	5.903000	0.69877	2.636000	0.89361	0.655000	0.94253	CGG		0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	15	0	0	0	0.00308	0	3	15				
PROS1	5627	broad.mit.edu	37	3	93617331	93617331	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:93617331C>A	ENST00000394236.3	-	8	1126	c.810G>T	c.(808-810)aaG>aaT	p.K270N	PROS1_ENST00000407433.1_Missense_Mutation_p.K139N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	270	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAATCCTTTCTTCCCATCAC	0.378																																							uc003drb.3		NA																	0				large_intestine(1)	1						c.(808-810)AAG>AAT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						100.0	94.0	96.0					3																	93617331		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93617331C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.810G>T	3.37:g.93617331C>A	ENSP00000377783:p.Lys270Asn					PROS1_uc010hoo.2_Missense_Mutation_p.K139N|PROS1_uc003dqz.3_Missense_Mutation_p.K139N	p.K270N	NM_000313	NP_000304	P07225	PROS_HUMAN			8	1151	-			270			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.810G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911231	0.52439	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79141	-1.24;-1.24	4.26	0.433	0.16534	Concanavalin A-like lectin/glucanase (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.200424	0.43110	D	0.000613	T	0.61110	0.2321	N	0.05487	-0.04	0.37906	D	0.931205	P	0.48162	0.906	P	0.46585	0.521	T	0.64470	-0.6400	10	0.72032	D	0.01	.	9.6895	0.40120	0.0:0.4619:0.0:0.5381	.	270	P07225	PROS_HUMAN	N	270;139	ENSP00000377783:K270N;ENSP00000385794:K139N	ENSP00000377783:K270N	K	-	3	2	PROS1	95100021	0.108000	0.22018	0.997000	0.53966	0.977000	0.68977	-0.831000	0.04405	-0.035000	0.13691	-0.224000	0.12420	AAG		0.378	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		28	61	1	0	6.07407e-21	0.007291	6.69388e-21	28	61				
MYH15	22989	broad.mit.edu	37	3	108110646	108110646	+	Silent	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:108110646C>G	ENST00000273353.3	-	38	5507	c.5451G>C	c.(5449-5451)ctG>ctC	p.L1817L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1817						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTCCCCATCAGGGCCATCT	0.473																																							uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(5449-5451)CTG>CTC		myosin, heavy polypeptide 15							224.0	219.0	221.0					3																	108110646		1925	4135	6060	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108110646C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5451G>C	3.37:g.108110646C>G							p.L1817L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			38	5508	-			1817			Potential.			Silent	SNP	ENST00000273353.3	37	c.5451G>C	CCDS43127.1																																																																																				0.473	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	247	0	0	0	0.001984	0	5	247				
TMPRSS7	344805	broad.mit.edu	37	3	111766638	111766638	+	Silent	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:111766638G>C	ENST00000452346.2	+	7	786	c.783G>C	c.(781-783)ccG>ccC	p.P261P	TMPRSS7_ENST00000419127.1_Silent_p.P135P			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	261	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACTACCCGCTGGAGATTT	0.473																																							uc010hqb.2		NA																	0				ovary(1)|kidney(1)	2						c.(403-405)CCG>CCC		transmembrane protease, serine 7							68.0	66.0	67.0					3																	111766638		1931	4132	6063	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766638G>C	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.783G>C	3.37:g.111766638G>C						TMPRSS7_uc011bhr.1_5'UTR	p.P135P	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			5	575	+			261			Extracellular (Potential).|CUB 1.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.405G>C																																																																																					0.473	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		11	81	0	0	0	0.003163	0	11	81				
CFAP44	55779	broad.mit.edu	37	3	113115417	113115417	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:113115417G>A	ENST00000295868.2	-	14	1889	c.1727C>T	c.(1726-1728)gCt>gTt	p.A576V	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.A576V	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGTGACACAAGCAGTATGGGG	0.383																																							uc003eae.1		NA																	0				central_nervous_system(1)	1						c.(1726-1728)GCT>GTT		WD repeat domain 52 isoform 2							110.0	109.0	109.0					3																	113115417		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113115417G>A																												ENST00000295868.2:c.1727C>T	3.37:g.113115417G>A	ENSP00000295868:p.Ala576Val						p.A576V	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			14	1773	-			576			WD 7.			Missense_Mutation	SNP	ENST00000295868.2	37	c.1727C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038557	0.35989	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.61040	0.14;0.14	5.53	-0.375	0.12509	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	.	.	.	.	T	0.58061	0.2096	M	0.66297	2.02	0.09310	N	0.999997	P	0.44521	0.837	B	0.43225	0.412	T	0.54977	-0.8212	9	0.32370	T	0.25	.	16.0989	0.81152	0.0:0.0:0.3921:0.6079	.	576	Q96MT7	WDR52_HUMAN	V	576	ENSP00000377428:A576V;ENSP00000295868:A576V	ENSP00000295868:A576V	A	-	2	0	WDR52	114598107	0.757000	0.28394	0.086000	0.20670	0.366000	0.29705	1.609000	0.36858	0.004000	0.14682	0.655000	0.94253	GCT		0.383	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			6	103	0	0	0	0.008291	0	6	103				
CCDC37	348807	broad.mit.edu	37	3	126138959	126138959	+	Silent	SNP	A	A	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:126138959A>G	ENST00000352312.1	+	11	1068	c.969A>G	c.(967-969)acA>acG	p.T323T	CCDC37_ENST00000393425.1_Silent_p.T324T|CCDC37_ENST00000505024.1_Silent_p.T324T	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	323										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCAGGGTACAAAGAAGCCCT	0.647																																							uc003eiu.1		NA																	0				ovary(1)|skin(1)	2						c.(967-969)ACA>ACG		coiled-coil domain containing 37							30.0	30.0	30.0					3																	126138959		2203	4299	6502	SO:0001819	synonymous_variant	348807							g.chr3:126138959A>G	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.969A>G	3.37:g.126138959A>G						CCDC37_uc010hsg.1_Silent_p.T324T	p.T323T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	11	1068	+			323					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.969A>G	CCDS3037.1																																																																																				0.647	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		3	27	0	0	0	0.004672	0	3	27				
WDR49	151790	broad.mit.edu	37	3	167277997	167277997	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:167277997C>T	ENST00000308378.3	-	5	811	c.506G>A	c.(505-507)gGg>gAg	p.G169E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.G222E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	169										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AACAGTAGACCCTGTATCAGA	0.378																																							uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(505-507)GGG>GAG		WD repeat domain 49							88.0	86.0	87.0					3																	167277997		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167277997C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.506G>A	3.37:g.167277997C>T	ENSP00000311343:p.Gly169Glu					WDR49_uc003feu.1_5'UTR|WDR49_uc011bpd.1_Missense_Mutation_p.G222E|WDR49_uc003few.1_Intron	p.G169E	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			5	812	-			169			WD 3.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.506G>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.532|4.532	0.098809|0.098809	0.08681|0.08681	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000453925;ENST00000466760|ENST00000472600	T;T;T|T	0.70164|0.17691	1.6;2.25;-0.46|2.26	4.93|4.93	3.1|3.1	0.35709|0.35709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.179466|0.179466	0.47455|0.47455	D|D	0.000227|0.000227	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.31926|0.31926	0.97|0.97	0.33245|0.33245	D|D	0.557694|0.557694	P;B|.	0.38788|.	0.647;0.341|.	B;B|.	0.32928|.	0.102;0.155|.	T|T	0.17868|0.17868	-1.0355|-1.0355	10|8	0.56958|0.72032	D|D	0.05|0.01	.|.	7.5811|7.5811	0.27965|0.27965	0.0:0.6935:0.1407:0.1658|0.0:0.6935:0.1407:0.1658	.|.	222;169|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	E|S	169;222;62|234	ENSP00000311343:G169E;ENSP00000410863:G222E;ENSP00000418718:G62E|ENSP00000419130:G234S	ENSP00000311343:G169E|ENSP00000419130:G234S	G|G	-|-	2|1	0|0	WDR49|WDR49	168760691|168760691	0.977000|0.977000	0.34250|0.34250	0.746000|0.746000	0.31095|0.31095	0.238000|0.238000	0.25445|0.25445	0.625000|0.625000	0.24477|0.24477	1.209000|1.209000	0.43321|0.43321	0.585000|0.585000	0.79938|0.79938	GGG|GGT		0.378	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		11	43	0	0	0	0.020292	0	11	43				
PLD1	5337	broad.mit.edu	37	3	171394539	171394539	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:171394539G>A	ENST00000351298.4	-	18	2207	c.2081C>T	c.(2080-2082)gCa>gTa	p.A694V	PLD1_ENST00000340989.4_Missense_Mutation_p.A694V|PLD1_ENST00000356327.5_Missense_Mutation_p.A656V|PLD1_ENST00000342215.6_Missense_Mutation_p.H585Y	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	694	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GAAGTGACGTGCCACATCACG	0.532																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(2080-2082)GCA>GTA		phospholipase D1 isoform a	Choline(DB00122)						97.0	89.0	92.0					3																	171394539		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394539G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2081C>T	3.37:g.171394539G>A	ENSP00000342793:p.Ala694Val					PLD1_uc003fht.2_Missense_Mutation_p.A656V|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.A19V	p.A694V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2197	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		694			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2081C>T	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.677775|5.677775	0.96764|0.96764	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000342215	T;T;T|T	0.23552|0.30182	1.9;1.9;1.9|1.54	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55689|0.55689	0.1936|0.1936	M|M	0.76433|0.76433	2.335|2.335	0.40073|0.40073	D|D	0.976049|0.976049	D;P;D|.	0.76494|.	0.961;0.863;0.999|.	P;B;D|.	0.70935|.	0.774;0.379;0.971|.	T|T	0.54768|0.54768	-0.8244|-0.8244	10|7	0.45353|0.51188	T|T	0.12|0.08	-18.3616|-18.3616	20.089|20.089	0.97809|0.97809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;679;694|.	Q13393-2;Q59EA4;Q13393|.	.;.;PLD1_HUMAN|.	V|Y	656;694;694|585	ENSP00000348681:A656V;ENSP00000342793:A694V;ENSP00000340326:A694V|ENSP00000339936:H585Y	ENSP00000340326:A694V|ENSP00000339936:H585Y	A|H	-|-	2|1	0|0	PLD1|PLD1	172877233|172877233	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.956000|0.956000	0.61745|0.61745	9.869000|9.869000	0.99810|0.99810	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	GCA|CAC		0.532	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		50	68	0	0	0	0.01441	0	50	68				
PIK3CA	5290	broad.mit.edu	37	3	178917494	178917495	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:178917494_178917495GC>TG	ENST00000263967.3	+	3	526_527	c.369_370GC>TG	c.(367-372)atGCca>atTGca	p.123_124MP>IA		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	123					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P124T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTATCGGCATGCCAGTGTGTGA	0.347		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1	Substitution - Missense(1)	p.P124T(1)	large_intestine(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(367-372)ATGCCA>ATTGCA		phosphoinositide-3-kinase, catalytic, alpha																																				SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917494_178917495GC>TG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	Exception_encountered	3.37:g.178917494_178917495delinsTG	ENSP00000263967:p.M123_P124delinsIA	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.123_124MP>IA	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	526_527	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		123_124					Q14CW1|Q99762	Missense_Mutation	DNP	ENST00000263967.3	37	c.369_370GC>TG	CCDS43171.1																																																																																				0.347	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			34	60	0	0	0	0.004672	0	34	60				
HRG	3273	broad.mit.edu	37	3	186383964	186383964	+	Silent	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr3:186383964C>T	ENST00000232003.4	+	1	224	c.144C>T	c.(142-144)ttC>ttT	p.F48F	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	48	Cystatin 1.|Interaction with ATP5A1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCTACCTTTTCCAATTGCTGC	0.532																																							uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(142-144)TTC>TTT		histidine-rich glycoprotein precursor							137.0	130.0	133.0					3																	186383964		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186383964C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.144C>T	3.37:g.186383964C>T							p.F48F	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	1	167	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		48			Cystatin 1.|Interaction with ATP5A1.		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.144C>T	CCDS3280.1																																																																																				0.532	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		6	150	0	0	0	0.00308	0	6	150				
EREG	2069	broad.mit.edu	37	4	75245174	75245174	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr4:75245174T>C	ENST00000244869.2	+	2	243	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	26					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GGTTTCCATCTTCTACAGGCA	0.363																																							uc003hie.1		NA																	0				breast(1)|skin(1)	2						c.(76-78)CTT>CCT		epiregulin preproprotein							125.0	121.0	122.0					4																	75245174		2203	4300	6503	SO:0001583	missense	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75245174T>C	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.77T>C	4.37:g.75245174T>C	ENSP00000244869:p.Leu26Pro					EREG_uc003hid.2_Missense_Mutation_p.L20P	p.L26P	NM_001432	NP_001423	O14944	EREG_HUMAN	Lung(101;0.196)		2	243	+			26					B2RC66|Q6FH69	Missense_Mutation	SNP	ENST00000244869.2	37	c.77T>C	CCDS3564.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095829	0.56075	.	.	ENSG00000124882	ENST00000244869	T	0.34472	1.36	5.81	5.81	0.92471	.	0.073088	0.52532	D	0.000062	T	0.55737	0.1939	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.58945	-0.7546	10	0.87932	D	0	-12.6575	12.5691	0.56326	0.0:0.0:0.0:1.0	.	26	O14944	EREG_HUMAN	P	26	ENSP00000244869:L26P	ENSP00000244869:L26P	L	+	2	0	EREG	75464038	0.934000	0.31675	1.000000	0.80357	0.471000	0.32888	4.475000	0.60210	2.217000	0.71921	0.482000	0.46254	CTT		0.363	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			31	146	0	0	0	0.007835	0	31	146				
PRDM8	56978	broad.mit.edu	37	4	81123237	81123237	+	Silent	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000339711.4_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010ijo.2		NA																	0				skin(1)	1						c.(619-621)GGC>GGT		PR domain containing 8							24.0	31.0	29.0					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.3_Silent_p.G207G|PRDM8_uc003hmc.3_Silent_p.G207G	p.G207G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	1460	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	27	0	0	0	0.004672	0	3	27				
PRDM9	56979	broad.mit.edu	37	5	23527198	23527198	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:23527198G>A	ENST00000296682.3	+	11	2183	c.2001G>A	c.(1999-2001)agG>agA	p.R667R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	667					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTCTGCAGGGAGTGTGGGC	0.622										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1999-2001)AGG>AGA		PR domain containing 9							15.0	15.0	15.0					5																	23527198		1338	3031	4369	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527198G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2001G>A	5.37:g.23527198G>A		HNSCC(3;0.000094)					p.R667R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2183	+			667			C2H2-type 7.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2001G>A	CCDS43307.1																																																																																				0.622	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		31	83	0	0	0	0.01441	0	31	83				
PTGER4	5734	broad.mit.edu	37	5	40692463	40692463	+	Missense_Mutation	SNP	T	T	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:40692463T>G	ENST00000302472.3	+	3	2474	c.1450T>G	c.(1450-1452)Tca>Gca	p.S484A		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	484					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	ACTGAACTTATCAGAAAAATG	0.458																																							uc003jlz.2		NA																	0				lung(2)	2						c.(1450-1452)TCA>GCA		prostaglandin E receptor 4, subtype EP4							44.0	50.0	48.0					5																	40692463		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40692463T>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1450T>G	5.37:g.40692463T>G	ENSP00000302846:p.Ser484Ala						p.S484A	NM_000958	NP_000949	P35408	PE2R4_HUMAN			3	2042	+			484			Cytoplasmic (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.1450T>G	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527328	0.44969	.	.	ENSG00000171522	ENST00000302472	T	0.54071	0.59	5.81	4.64	0.57946	.	0.000000	0.46145	D	0.000302	T	0.49949	0.1587	L	0.57536	1.79	0.33108	D	0.540168	B	0.23650	0.089	B	0.23852	0.049	T	0.60525	-0.7246	10	0.66056	D	0.02	-6.2924	12.3478	0.55130	0.1266:0.0:0.0:0.8734	.	484	P35408	PE2R4_HUMAN	A	484	ENSP00000302846:S484A	ENSP00000302846:S484A	S	+	1	0	PTGER4	40728220	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	3.309000	0.51903	1.008000	0.39264	0.533000	0.62120	TCA		0.458	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		35	88	0	0	0	0.009718	0	35	88				
IL31RA	133396	broad.mit.edu	37	5	55164714	55164714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:55164714C>T	ENST00000447346.2	+	3	315	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	IL31RA_ENST00000396834.1_Nonsense_Mutation_p.Q65*|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.Q84*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.Q65*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.Q84*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	52	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGTTATACCCAGTACACAGT	0.433																																							uc003jql.2		NA																	0				ovary(1)	1						c.(250-252)CAG>TAG		gp130-like monocyte receptor							104.0	107.0	106.0					5																	55164714		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55164714C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.250C>T	5.37:g.55164714C>T	ENSP00000415900:p.Gln84*					IL31RA_uc003jqk.2_Nonsense_Mutation_p.Q84*|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Nonsense_Mutation_p.Q52*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.Q84*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.Q52*|IL31RA_uc003jqo.2_5'UTR	p.Q84*	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			3	315	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	52			Extracellular (Potential).|Fibronectin type-III 1.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.250C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292437	0.40594	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000354961	.	.	.	3.73	-4.13	0.03904	.	2.693970	0.01779	U	0.031624	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.2986	0.732	0.00958	0.2316:0.2932:0.2877:0.1875	.	.	.	.	X	84;65;84;84;65	.	ENSP00000347047:Q65X	Q	+	1	0	IL31RA	55200471	0.001000	0.12720	0.000000	0.03702	0.142000	0.21351	-0.378000	0.07446	-0.503000	0.06586	0.655000	0.94253	CAG		0.433	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		13	88	0	0	0	0.004007	0	13	88				
ALDH7A1	501	broad.mit.edu	37	5	125912887	125912887	+	Silent	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:125912887C>T	ENST00000409134.3	-	6	753	c.534G>A	c.(532-534)ctG>ctA	p.L178L	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Silent_p.L178L|ALDH7A1_ENST00000447989.2_Silent_p.L205L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	178					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		ACTGCTCAATCAGTGCATGGC	0.463																																							uc003ktx.2		NA																	0				kidney(2)|ovary(1)	3						c.(532-534)CTG>CTA		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						87.0	73.0	77.0					5																	125912887		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125912887C>T	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.534G>A	5.37:g.125912887C>T						ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.L205L|ALDH7A1_uc003ktz.2_Silent_p.L205L	p.L178L	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	6	726	-		all_cancers(142;0.24)|Prostate(80;0.081)	178					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.534G>A	CCDS4137.2																																																																																				0.463	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		7	45	0	0	0	0.001984	0	7	45				
PCDHB6	56130	broad.mit.edu	37	5	140530708	140530708	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:140530708C>A	ENST00000231136.1	+	1	870	c.870C>A	c.(868-870)ttC>ttA	p.F290L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.F154L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACCCTTCGAAATAAACG	0.458																																							uc003lir.2		NA																	0				skin(1)	1						c.(868-870)TTC>TTA		protocadherin beta 6 precursor							89.0	95.0	93.0					5																	140530708		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530708C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.870C>A	5.37:g.140530708C>A	ENSP00000231136:p.Phe290Leu					PCDHB6_uc011dah.1_Missense_Mutation_p.F154L	p.F290L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	870	+			290			Cadherin 3.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.870C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878485	0.51801	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	D;D	0.82526	-1.62;-1.62	4.85	-1.07	0.09968	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90123	0.6914	M	0.85777	2.775	0.24709	N	0.993215	D	0.89917	1.0	D	0.97110	1.0	T	0.82059	-0.0645	9	0.49607	T	0.09	.	10.8996	0.47043	0.0:0.4002:0.0:0.5998	.	290	Q9Y5E3	PCDB6_HUMAN	L	154;290;75	ENSP00000438466:F154L;ENSP00000231136:F290L	ENSP00000231136:F290L	F	+	3	2	PCDHB6	140510892	0.000000	0.05858	0.821000	0.32701	0.724000	0.41520	-1.737000	0.01843	-0.527000	0.06374	0.561000	0.74099	TTC		0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		26	46	1	0	2.61193e-14	0.009535	2.82089e-14	26	46				
PCDH12	51294	broad.mit.edu	37	5	141336054	141336054	+	Missense_Mutation	SNP	C	C	T	rs369744444		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:141336054C>T	ENST00000231484.3	-	1	2573	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCATTGTCGTTGATGTCA	0.483																																							uc003llx.2		NA																	0				ovary(3)	3						c.(1363-1365)GAC>AAC		protocadherin 12 precursor		C	ASN/ASP	0,4406		0,0,2203	204.0	182.0	189.0		1363	4.9	1.0	5		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH12	NM_016580.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	455/1185	141336054	1,13005	2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336054C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1363G>A	5.37:g.141336054C>T	ENSP00000231484:p.Asp455Asn						p.D455N	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2574	-		all_hematologic(541;0.0999)	455			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1363G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349756	0.61183	0.0	1.16E-4	ENSG00000113555	ENST00000231484	T	0.71579	-0.58	4.92	4.92	0.64577	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91761	0.5420	10	0.87932	D	0	.	15.6596	0.77174	0.0:1.0:0.0:0.0	.	455	Q9NPG4	PCD12_HUMAN	N	455	ENSP00000231484:D455N	ENSP00000231484:D455N	D	-	1	0	PCDH12	141316238	1.000000	0.71417	0.962000	0.40283	0.298000	0.27526	7.651000	0.83577	2.558000	0.86282	0.561000	0.74099	GAC		0.483	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		6	138	0	0	0	0.001168	0	6	138				
CDHR2	54825	broad.mit.edu	37	5	176022672	176022672	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:176022672G>A	ENST00000510636.1	+	32	4206	c.3932G>A	c.(3931-3933)tGa>tAa	p.*1311*	CDHR2_ENST00000261944.5_Silent_p.*1311*|CDHR2_ENST00000506348.1_Silent_p.*1311*	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	0					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGGACCTGTGACAGGGGCCC	0.622																																							uc003mem.1		NA																	0				ovary(2)	2						c.(3931-3933)TGA>TAA		protocadherin LKC precursor							80.0	84.0	83.0					5																	176022672		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176022672G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3932G>A	5.37:g.176022672G>A						CDHR2_uc003men.1_Silent_p.*1311*	p.*1311*	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			32	3998	+			1311					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3932G>A	CCDS34297.1																																																																																				0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	146	0	0	0	0.00308	0	5	146				
HK3	3101	broad.mit.edu	37	5	176317899	176317899	+	Missense_Mutation	SNP	G	G	A	rs113978418	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:176317899G>A	ENST00000292432.5	-	5	549	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	153	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGGCTGCGCATCCAGGAA	0.597													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		21028	0.0		0.0	False		,,,				2504	0.0						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(457-459)GCG>GTG		hexokinase 3		G	VAL/ALA	36,4370	41.6+/-74.8	1,34,2168	60.0	57.0	58.0		458	1.6	0.0	5	dbSNP_132	58	0,8600		0,0,4300	yes	missense	HK3	NM_002115.2	64	1,34,6468	AA,AG,GG		0.0,0.8171,0.2768	benign	153/924	176317899	36,12970	2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317899G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.458C>T	5.37:g.176317899G>A	ENSP00000292432:p.Ala153Val					HK3_uc003mez.2_5'Flank	p.A153V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	550	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	153			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.458C>T	CCDS4407.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	9.180	1.023440	0.19433	0.008171	0.0	ENSG00000160883	ENST00000292432	D	0.99023	-5.34	4.79	1.56	0.23342	Hexokinase, N-terminal (1);	0.977455	0.08383	N	0.954162	D	0.95427	0.8515	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.20184	0.028	D	0.91970	0.5586	10	0.72032	D	0.01	.	4.206	0.10488	0.2094:0.0:0.4616:0.329	.	153	P52790	HXK3_HUMAN	V	153	ENSP00000292432:A153V	ENSP00000292432:A153V	A	-	2	0	HK3	176250505	0.155000	0.22806	0.005000	0.12908	0.104000	0.19210	2.261000	0.43276	0.436000	0.26393	0.561000	0.74099	GCG		0.597	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			26	74	0	0	0	0.00632	0	26	74				
PROP1	5626	broad.mit.edu	37	5	177419761	177419761	+	Silent	SNP	T	T	G	rs535993919	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr5:177419761T>G	ENST00000308304.2	-	3	938	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	210					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAGGGGGTGGGGGGCAGG	0.637													T|||	79	0.0157748	0.0197	0.0086	5008	,	,		10279	0.0139		0.007	False		,,,				2504	0.0266						uc003mif.1		NA																	0					0						c.(628-630)CCA>CCC		PROP paired-like homeobox 1																																				SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419761T>G	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.630A>C	5.37:g.177419761T>G							p.P210P	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	939	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210						Silent	SNP	ENST00000308304.2	37	c.630A>C	CCDS4430.1																																																																																				0.637	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		6	49	0	0	0	0.016723	0	6	49				
CEP85L	387119	broad.mit.edu	37	6	118832571	118832571	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr6:118832571G>C	ENST00000368491.3	-	5	1768	c.1147C>G	c.(1147-1149)Caa>Gaa	p.Q383E	CEP85L_ENST00000360290.3_Missense_Mutation_p.Q281E|CEP85L_ENST00000392500.3_Missense_Mutation_p.Q386E|CEP85L_ENST00000419517.2_Missense_Mutation_p.Q383E|CEP85L_ENST00000368488.5_Missense_Mutation_p.Q386E	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	383						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GTAATTTGTTGCTTCTGCCTG	0.353																																							uc003pxz.1		NA																	0				breast(1)	1						c.(1147-1149)CAA>GAA		chromosome 6 open reading frame 204 isoform a							110.0	103.0	105.0					6																	118832571		2203	4299	6502	SO:0001583	missense	387119					centrosome		g.chr6:118832571G>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1147C>G	6.37:g.118832571G>C	ENSP00000357477:p.Gln383Glu					C6orf204_uc003pya.1_Missense_Mutation_p.Q386E|C6orf204_uc003pyb.2_Missense_Mutation_p.Q383E|C6orf204_uc011ebj.1_Missense_Mutation_p.Q281E|C6orf204_uc003pyc.2_Missense_Mutation_p.Q386E	p.Q383E	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	5	1735	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	383					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1147C>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974417	0.74246	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.30714	2.83;2.83;2.83;1.91;1.52;1.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.62723	1.935	0.44956	D	0.997976	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.44329	-0.9335	10	0.87932	D	0	-13.5221	16.7142	0.85393	0.0:0.0:1.0:0.0	.	386;383;386;383	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	E	383;386;386;386;281;383	ENSP00000357477:Q383E;ENSP00000357474:Q386E;ENSP00000392131:Q386E;ENSP00000376288:Q386E;ENSP00000353434:Q281E;ENSP00000393317:Q383E	ENSP00000353434:Q281E	Q	-	1	0	C6orf204	118939264	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.310000	0.72830	2.673000	0.90976	0.650000	0.86243	CAA		0.353	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		13	18	0	0	0	0.003163	0	13	18				
SNX13	23161	broad.mit.edu	37	7	17838335	17838335	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr7:17838335C>G	ENST00000409389.1	-	24	2696	c.2524G>C	c.(2524-2526)Gcc>Ccc	p.A842P	SNX13_ENST00000428135.3_Missense_Mutation_p.A831P|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	842					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ACTGAGTCGGCTACTTGTTCA	0.333																																							uc003stw.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(2524-2526)GCC>CCC		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							99.0	90.0	93.0					7																	17838335		1873	4097	5970	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838335C>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2524G>C	7.37:g.17838335C>G	ENSP00000386705:p.Ala842Pro					SNX13_uc003stv.2_Missense_Mutation_p.A831P|SNX13_uc010kuc.2_Missense_Mutation_p.A628P|SNX13_uc010kub.2_Missense_Mutation_p.A237P	p.A842P			Q9Y5W8	SNX13_HUMAN			24	2737	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		842					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2524G>C		.	.	.	.	.	.	.	.	.	.	C	29.4	5.005156	0.93287	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.34859	1.34;1.34	5.95	5.95	0.96441	.	0.046983	0.85682	D	0.000000	T	0.62380	0.2423	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.994;0.99;0.999	D;D;D	0.67725	0.933;0.953;0.918	T	0.61068	-0.7137	10	0.54805	T	0.06	-14.5009	20.3748	0.98911	0.0:1.0:0.0:0.0	.	628;842;831	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	P	842;831;879	ENSP00000386705:A842P;ENSP00000398789:A831P	ENSP00000242044:A879P	A	-	1	0	SNX13	17804860	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.311000	0.65786	2.817000	0.96982	0.563000	0.77884	GCC		0.333	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		6	13	0	0	0	0.004482	0	6	13				
CAMK2B	816	broad.mit.edu	37	7	44274242	44274242	+	Missense_Mutation	SNP	A	A	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr7:44274242A>T	ENST00000395749.2	-	14	1131	c.1055T>A	c.(1054-1056)gTc>gAc	p.V352D	CAMK2B_ENST00000457475.1_Missense_Mutation_p.V328D|CAMK2B_ENST00000347193.4_Missense_Mutation_p.V352D|CAMK2B_ENST00000258682.6_Missense_Mutation_p.V327D|CAMK2B_ENST00000358707.3_Missense_Mutation_p.V328D|CAMK2B_ENST00000502837.2_Missense_Mutation_p.V223D|CAMK2B_ENST00000395747.2_Missense_Mutation_p.V328D|CAMK2B_ENST00000353625.4_Missense_Mutation_p.V328D|CAMK2B_ENST00000440254.2_Missense_Mutation_p.V352D|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Missense_Mutation_p.V352D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	352					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCTCACCTTGACTCCATCTGC	0.647																																							uc003tkq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1054-1056)GTC>GAC		calcium/calmodulin-dependent protein kinase II							82.0	70.0	74.0					7																	44274242		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44274242A>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1055T>A	7.37:g.44274242A>T	ENSP00000379098:p.Val352Asp					CAMK2B_uc003tkp.2_Missense_Mutation_p.V352D|CAMK2B_uc003tkx.2_Missense_Mutation_p.V327D|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.V328D|CAMK2B_uc003tks.2_Missense_Mutation_p.V327D|CAMK2B_uc003tku.2_Missense_Mutation_p.V328D|CAMK2B_uc003tkv.2_Missense_Mutation_p.V328D|CAMK2B_uc003tkt.2_Missense_Mutation_p.V352D|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Missense_Mutation_p.V352D	p.V352D	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			14	1265	-			352					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1055T>A	CCDS5483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	20.1|20.1	3.937672|3.937672	0.73557|0.73557	.|.	.|.	ENSG00000058404|ENSG00000058404	ENST00000433930|ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000258682;ENST00000395747	.|T;T;T;T;T;T;T;T;T;T	.|0.70045	.|-0.39;-0.28;-0.45;0.28;-0.39;-0.37;-0.27;-0.37;-0.31;-0.28	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.63450|0.63450	0.2512|0.2512	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B;P;B;B;P;P	.|0.41313	.|0.313;0.004;0.115;0.631;0.209;0.426;0.611;0.745	.|B;B;B;P;B;B;B;B	.|0.45167	.|0.252;0.038;0.185;0.472;0.128;0.185;0.265;0.361	T|T	0.59166|0.59166	-0.7505|-0.7505	6|9	0.27082|0.12103	T|T	0.32|0.63	.|.	10.5041|10.5041	0.44823|0.44823	0.8374:0.1626:0.0:0.0|0.8374:0.1626:0.0:0.0	.|.	.|327;328;328;352;327;328;352;352	.|Q13554-8;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.|.;.;.;.;.;.;KCC2B_HUMAN;.	T|D	109|352;328;352;223;352;328;328;352;327;328	.|ENSP00000326375:V352D;ENSP00000390292:V328D;ENSP00000379098:V352D;ENSP00000422416:V223D;ENSP00000397937:V352D;ENSP00000351542:V328D;ENSP00000326427:V328D;ENSP00000326544:V352D;ENSP00000258682:V327D;ENSP00000379096:V328D	ENSP00000326600:S313T|ENSP00000258682:V327D	S|V	-|-	1|2	0|0	CAMK2B|CAMK2B	44240767|44240767	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	2.678000|2.678000	0.46900|0.46900	2.043000|2.043000	0.60533|0.60533	0.454000|0.454000	0.30748|0.30748	TCA|GTC		0.647	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		14	28	0	0	0	0.00499	0	14	28				
MUC17	140453	broad.mit.edu	37	7	100686290	100686290	+	Missense_Mutation	SNP	C	C	T	rs376404588		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr7:100686290C>T	ENST00000306151.4	+	3	11657	c.11593C>T	c.(11593-11595)Cgt>Tgt	p.R3865C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3865					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACCATACGTATTTCAAT	0.493																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11593-11595)CGT>TGT		mucin 17 precursor			CYS/ARG	1,4405	4.2+/-10.8	0,1,2202	144.0	131.0	135.0		11593	-1.8	0.0	7		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	3865/4494	100686290	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686290C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11593C>T	7.37:g.100686290C>T	ENSP00000302716:p.Arg3865Cys					MUC17_uc010lho.1_RNA	p.R3865C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11646	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3865			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11593C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.314	-0.601381	0.03744	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.878	-1.76	0.08006	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.67382	0.951	T	0.39800	-0.9596	9	0.51188	T	0.08	.	2.1577	0.03816	0.3258:0.4249:0.0:0.2493	.	3865	Q685J3	MUC17_HUMAN	C	3865	ENSP00000302716:R3865C	ENSP00000302716:R3865C	R	+	1	0	MUC17	100473010	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.750000	0.04808	-1.751000	0.01326	-1.167000	0.01749	CGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	133	0	0	0	0.006122	0	19	133				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393451.3_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000422922.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																							uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		5	27	0	0	0	0.008361	0	5	27				
TRIM35	23087	broad.mit.edu	37	8	27145561	27145561	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr8:27145561G>A	ENST00000305364.4	-	6	1071	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	330	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACCTGCACGCGGTAGCCATGG	0.657																																							uc003xfl.1		NA																	0					0						c.(988-990)CGC>TGC		tripartite motif-containing 35 isoform 2							40.0	44.0	43.0					8																	27145561		2203	4300	6503	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145561G>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.988C>T	8.37:g.27145561G>A	ENSP00000301924:p.Arg330Cys					TRIM35_uc010lup.1_3'UTR	p.R330C	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1070	-		Ovarian(32;2.61e-05)	330			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.988C>T	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580015	0.86645	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61627	0.09	5.58	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.090760	0.48767	D	0.000161	T	0.69513	0.3119	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.72181	-0.4368	10	0.72032	D	0.01	.	10.285	0.43562	0.0907:0.0:0.9093:0.0	.	330	Q9UPQ4	TRI35_HUMAN	C	330	ENSP00000301924:R330C	ENSP00000301924:R330C	R	-	1	0	TRIM35	27201478	0.998000	0.40836	0.759000	0.31340	0.985000	0.73830	4.517000	0.60503	1.361000	0.45981	0.491000	0.48974	CGC		0.657	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		3	57	0	0	0	0.004672	0	3	57				
KCNB2	9312	broad.mit.edu	37	8	73848794	73848794	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr8:73848794T>C	ENST00000523207.1	+	3	1792	c.1204T>C	c.(1204-1206)Tgt>Cgt	p.C402R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	402					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGTCTGTGCTGTATTGCTGG	0.433																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1204-1206)TGT>CGT		potassium voltage-gated channel, Shab-related							93.0	93.0	93.0					8																	73848794		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848794T>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1204T>C	8.37:g.73848794T>C	ENSP00000430846:p.Cys402Arg						p.C402R	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1792	+	Breast(64;0.137)		402			Helical; Name=Segment S6; (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1204T>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875796	0.51695	.	.	ENSG00000182674	ENST00000523207	D	0.98437	-4.93	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.49305	D	0.000143	D	0.98795	0.9594	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.99671	1.0996	10	0.87932	D	0	.	11.9235	0.52806	0.0:0.0697:0.0:0.9303	.	402	Q92953	KCNB2_HUMAN	R	402	ENSP00000430846:C402R	ENSP00000430846:C402R	C	+	1	0	KCNB2	74011348	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TGT		0.433	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		23	96	0	0	0	0.010818	0	23	96				
EMC2	9694	broad.mit.edu	37	8	109491251	109491251	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr8:109491251C>T	ENST00000220853.3	+	10	754	c.719C>T	c.(718-720)gCt>gTt	p.A240V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	240						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGTCATATTGCTTCTAATCCA	0.328																																							uc003ymw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(718-720)GCT>GTT		tetratricopeptide repeat domain 35							106.0	96.0	99.0					8																	109491251		2203	4300	6503	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109491251C>T	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.719C>T	8.37:g.109491251C>T	ENSP00000220853:p.Ala240Val						p.A240V	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		10	754	+			240					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.719C>T	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887942	0.91814	.	.	ENSG00000104412	ENST00000220853	T	0.76060	-0.99	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.74647	2.275	0.80722	D	1	P	0.47762	0.9	B	0.41135	0.348	T	0.72839	-0.4171	10	0.14656	T	0.56	-9.2832	20.3552	0.98837	0.0:1.0:0.0:0.0	.	240	Q15006	TTC35_HUMAN	V	240	ENSP00000220853:A240V	ENSP00000220853:A240V	A	+	2	0	TTC35	109560427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.412000	0.80091	2.812000	0.96745	0.557000	0.71058	GCT		0.328	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		13	56	0	0	0	0.020292	0	13	56				
SCRIB	23513	broad.mit.edu	37	8	144892864	144892864	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr8:144892864C>G	ENST00000320476.3	-	12	1402	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E385Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.E466Q|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	466	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCCGCTTCTCAGCTGCAGCT	0.647																																					Pancreas(51;966 1133 10533 14576 29674)	Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1396-1398)GAG>CAG		scribble isoform b							129.0	126.0	127.0					8																	144892864		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892864C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1396G>C	8.37:g.144892864C>G	ENSP00000322938:p.Glu466Gln					SCRIB_uc003yzo.1_Missense_Mutation_p.E466Q	p.E466Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1403	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		466			Potential.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1396G>C	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514380	0.44763	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.80123	-1.34;-1.34;-1.34	3.68	2.8	0.32819	.	.	.	.	.	D	0.85353	0.5677	M	0.73962	2.25	0.52501	D	0.999959	D;P	0.62365	0.991;0.859	P;P	0.60236	0.871;0.623	T	0.82744	-0.0306	9	0.33940	T	0.23	.	10.2791	0.43528	0.0:0.8999:0.0:0.1001	.	466;466	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	466;466;385	ENSP00000349486:E466Q;ENSP00000322938:E466Q;ENSP00000366756:E385Q	ENSP00000322938:E466Q	E	-	1	0	SCRIB	144964852	0.996000	0.38824	0.377000	0.26055	0.205000	0.24178	4.889000	0.63171	0.663000	0.31027	0.448000	0.29417	GAG		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		15	273	0	0	0	0.004007	0	15	273				
UBAP2	55833	broad.mit.edu	37	9	33988994	33988994	+	Missense_Mutation	SNP	C	C	T	rs112150520	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:33988994C>T	ENST00000379238.1	-	5	536	c.419G>A	c.(418-420)aGa>aAa	p.R140K	UBAP2_ENST00000449054.1_Missense_Mutation_p.R140K|UBAP2_ENST00000418786.2_Missense_Mutation_p.R140K|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.R140K					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTGCCGCCTCTTCCTTTCCG	0.428																																							uc003ztq.1		NA																	0				ovary(3)	3						c.(418-420)AGA>AAA		ubiquitin associated protein 2							253.0	237.0	243.0					9																	33988994		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33988994C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.419G>A	9.37:g.33988994C>T	ENSP00000368540:p.Arg140Lys					UBAP2_uc011loc.1_Missense_Mutation_p.R102K|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R65K|UBAP2_uc011log.1_Missense_Mutation_p.R139K|UBAP2_uc003ztr.2_Missense_Mutation_p.R65K	p.R140K	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	532	-			140						Missense_Mutation	SNP	ENST00000379238.1	37	c.419G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748642	0.69533	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.17	5.17	0.71159	.	0.092406	0.64402	D	0.000001	T	0.57519	0.2059	M	0.75447	2.3	0.58432	D	0.999991	P;D;P;D;P	0.69078	0.938;0.997;0.734;0.995;0.874	P;D;B;D;P	0.77557	0.776;0.99;0.391;0.978;0.621	T	0.58885	-0.7557	10	0.48119	T	0.1	-17.2295	18.7038	0.91630	0.0:1.0:0.0:0.0	.	140;65;102;65;140	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	K	140;140;140;102;80;140;140;16	ENSP00000368540:R140K;ENSP00000416932:R140K;ENSP00000354039:R140K;ENSP00000404436:R140K;ENSP00000414800:R140K	ENSP00000354039:R140K	R	-	2	0	UBAP2	33978994	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	2.640000	0.46579	2.402000	0.81655	0.650000	0.86243	AGA		0.428	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		9	139	0	0	0	0.016723	0	9	139				
PAPPA	5069	broad.mit.edu	37	9	118950344	118950344	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:118950344C>A	ENST00000328252.3	+	2	1696	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	443	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTGCCGCCACCTGCGCCACCC	0.587																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1327-1329)CTG>ATG		pregnancy-associated plasma protein A							79.0	58.0	65.0					9																	118950344		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950344C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1327C>A	9.37:g.118950344C>A	ENSP00000330658:p.Leu443Met					PAPPA_uc011lxp.1_Missense_Mutation_p.L236M|PAPPA_uc011lxq.1_Missense_Mutation_p.L236M	p.L443M	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1708	+			443			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1327C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	9.372	1.070785	0.20147	.	.	ENSG00000182752	ENST00000328252	T	0.02085	4.46	6.07	0.916	0.19373	.	0.642529	0.16531	N	0.210357	T	0.02455	0.0075	L	0.55481	1.735	0.20196	N	0.999921	P	0.46706	0.883	B	0.39119	0.291	T	0.45920	-0.9228	10	0.42905	T	0.14	-7.4605	5.6491	0.17606	0.0:0.4723:0.2096:0.318	.	443	Q13219	PAPP1_HUMAN	M	443	ENSP00000330658:L443M	ENSP00000330658:L443M	L	+	1	2	PAPPA	117990165	0.003000	0.15002	0.336000	0.25522	0.735000	0.41995	0.272000	0.18644	0.163000	0.19507	0.655000	0.94253	CTG		0.587	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		26	77	1	0	3.65163e-15	0.00632	3.98359e-15	26	77				
ASTN2	23245	broad.mit.edu	37	9	119903720	119903720	+	Silent	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:119903720C>G	ENST00000313400.4	-	4	1153	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.L351L			O75129	ASTN2_HUMAN	astrotactin 2	351					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTCTGCATCAGGGACTCCA	0.592																																							uc004bjs.1		NA																	0		p.G351G(1)		skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1051-1053)CTG>CTC		astrotactin 2 isoform c							83.0	69.0	74.0					9																	119903720		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903720C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1053G>C	9.37:g.119903720C>G						ASTN2_uc004bjr.1_Silent_p.L351L|ASTN2_uc004bjt.1_Intron	p.L351L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			4	1154	-			351			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1053G>C																																																																																					0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		24	74	0	0	0	0.004656	0	24	74				
OR1K1	392392	broad.mit.edu	37	9	125563288	125563288	+	Missense_Mutation	SNP	G	G	A	rs138952318	byFrequency	TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:125563288G>A	ENST00000277309.2	+	1	919	c.887G>A	c.(886-888)cGc>cAc	p.R296H		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CTCTGGAATCGCGATGTACAG	0.602													g|||	2	0.000399361	0.0	0.0	5008	,	,		20834	0.0		0.002	False		,,,				2504	0.0						uc011lze.1		NA																	0				ovary(1)	1						c.(886-888)CGC>CAC		olfactory receptor, family 1, subfamily K,		A	HIS/ARG	1,4405		0,1,2202	67.0	60.0	63.0		887	-1.5	0.0	9	dbSNP_134	63	1,8599		0,1,4299	yes	missense	OR1K1	NM_080859.1	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	296/317	125563288	2,13004	2203	4300	6503	SO:0001583	missense	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563288G>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.887G>A	9.37:g.125563288G>A	ENSP00000277309:p.Arg296His						p.R296H	NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN			1	887	+			296			Cytoplasmic (Potential).		B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.887G>A	CCDS35132.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	9.459	1.092579	0.20471	2.27E-4	1.16E-4	ENSG00000165204	ENST00000277309	T	0.39592	1.07	4.49	-1.47	0.08772	.	0.000000	0.38837	U	0.001555	T	0.43211	0.1237	L	0.42245	1.32	0.09310	N	1	D	0.67145	0.996	P	0.55345	0.774	T	0.45249	-0.9274	10	0.62326	D	0.03	.	10.6547	0.45667	0.6744:0.0:0.3256:0.0	.	296	Q8NGR3	OR1K1_HUMAN	H	296	ENSP00000277309:R296H	ENSP00000277309:R296H	R	+	2	0	OR1K1	124603109	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	-0.550000	0.06183	-0.981000	0.02577	CGC		0.602	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			30	108	0	0	0	0.013726	0	30	108				
GAPVD1	26130	broad.mit.edu	37	9	128088766	128088766	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:128088766G>A	ENST00000495955.1	+	12	2220	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	GAPVD1_ENST00000394105.2_Missense_Mutation_p.D644N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D623N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D644N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D623N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D644N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D644N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D644N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	644					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATTAACAGATGATAGGGACAT	0.378																																							uc010mwx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1930-1932)GAT>AAT		GTPase activating protein and VPS9 domains 1							202.0	186.0	191.0					9																	128088766		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128088766G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1930G>A	9.37:g.128088766G>A	ENSP00000419063:p.Asp644Asn					GAPVD1_uc011lzs.1_Missense_Mutation_p.D644N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D644N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D644N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D623N|GAPVD1_uc004bps.2_Missense_Mutation_p.D644N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D503N	p.D644N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			12	2256	+			644					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1930G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.413566|5.413566	0.96072|0.96072	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.14640|.	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.71674|.	0.996;0.993;0.996;0.996;0.996;0.998|.	D;D;D;D;D;D|.	0.78314|.	0.987;0.971;0.981;0.981;0.981;0.991|.	T|T	0.52548|0.52548	-0.8561|-0.8561	10|5	0.45353|.	T|.	0.12|.	.|.	17.568|17.568	0.87926|0.87926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	644;644;644;623;644;644|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	N|I	644;644;644;644;623;644;644;644;623|506	ENSP00000419767:D644N;ENSP00000377665:D644N;ENSP00000377664:D644N;ENSP00000265956:D644N;ENSP00000377645:D623N;ENSP00000419063:D644N;ENSP00000418747:D644N;ENSP00000297933:D644N;ENSP00000309582:D623N|.	ENSP00000265956:D644N|.	D|M	+|+	1|3	0|0	GAPVD1|GAPVD1	127128587|127128587	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	9.476000|9.476000	0.97823|0.97823	2.402000|2.402000	0.81655|0.81655	0.491000|0.491000	0.48974|0.48974	GAT|ATG		0.378	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			4	143	0	0	0	0.001984	0	4	143				
PBX3	5090	broad.mit.edu	37	9	128691974	128691974	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:128691974G>T	ENST00000373489.5	+	4	573	c.557G>T	c.(556-558)cGa>cTa	p.R186L	PBX3_ENST00000447726.2_Missense_Mutation_p.R111L|PBX3_ENST00000373487.4_Missense_Mutation_p.R186L|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.R5L|PBX3_ENST00000342287.5_Missense_Mutation_p.R186L	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	186					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AACCTTCTCCGAGAACAGAGT	0.383																																							uc004bqb.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(556-558)CGA>CTA		pre-B-cell leukemia homeobox 3 isoform 1							138.0	127.0	130.0					9																	128691974		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128691974G>T		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.557G>T	9.37:g.128691974G>T	ENSP00000362588:p.Arg186Leu					PBX3_uc004bqc.2_Missense_Mutation_p.R5L|PBX3_uc004bqd.2_Missense_Mutation_p.R5L|PBX3_uc011lzw.1_Missense_Mutation_p.R111L|PBX3_uc011lzx.1_Missense_Mutation_p.R97L|PBX3_uc004bqe.2_Missense_Mutation_p.R73L	p.R186L	NM_006195	NP_006186	P40426	PBX3_HUMAN			4	673	+			186					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.557G>T	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291851	0.95546	.	.	ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.56	5.56	0.83823	PBX (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.85542	2.76	0.80722	D	1	P;D;D	0.76494	0.942;0.999;0.989	P;D;D	0.91635	0.838;0.999;0.973	T	0.71817	-0.4478	10	0.87932	D	0	.	19.5295	0.95223	0.0:0.0:1.0:0.0	.	97;186;186	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	L	5;186;186;186;5;5;111;97	ENSP00000362588:R186L;ENSP00000341990:R186L;ENSP00000362586:R186L;ENSP00000362582:R5L;ENSP00000387456:R111L;ENSP00000444005:R97L	ENSP00000341990:R186L	R	+	2	0	PBX3	127731795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.628000	0.89032	0.455000	0.32223	CGA		0.383	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			32	92	1	0	2.54651e-27	0.006999	2.86482e-27	32	92				
RALGDS	5900	broad.mit.edu	37	9	135982592	135982592	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:135982592G>A	ENST00000372050.3	-	7	1314	c.1293C>T	c.(1291-1293)cgC>cgT	p.R431R	RALGDS_ENST00000393157.3_Silent_p.R430R|RALGDS_ENST00000393160.3_Silent_p.R376R|RALGDS_ENST00000372047.3_Silent_p.R419R|RALGDS_ENST00000542690.1_Silent_p.R502R|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Silent_p.R402R	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	431	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGACAGTGGCGCGGATGGTGG	0.632			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NA		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1291-1293)CGC>CGT		ral guanine nucleotide dissociation stimulator							102.0	89.0	93.0					9																	135982592		2202	4300	6502	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135982592G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1293C>T	9.37:g.135982592G>A						RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.R419R|RALGDS_uc004ccr.2_Silent_p.R430R|RALGDS_uc011mcv.1_Silent_p.R402R|RALGDS_uc004ccs.2_Silent_p.R376R|RALGDS_uc011mcw.1_Silent_p.R502R|RALGDS_uc004ccv.1_Silent_p.R200R|RALGDS_uc004ccu.1_Silent_p.R200R	p.R431R	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	7	1313	-			431			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	c.1293C>T	CCDS6959.1																																																																																				0.632	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		4	122	0	0	0	0.001168	0	4	122				
QSOX2	169714	broad.mit.edu	37	9	139100646	139100646	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr9:139100646G>A	ENST00000358701.5	-	12	2062	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	675					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACATCACCATGAGGAACAGGG	0.632																																							uc010nbi.2		NA																	0				ovary(1)	1						c.(2023-2025)CTC>CTT		quiescin Q6 sulfhydryl oxidase 2 precursor							142.0	120.0	128.0					9																	139100646		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100646G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2025C>T	9.37:g.139100646G>A							p.L675L	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	2063	-		Myeloproliferative disorder(178;0.0511)	675			Helical; (Potential).		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.2025C>T	CCDS35178.1																																																																																				0.632	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		4	178	0	0	0	0.009096	0	4	178				
TBC1D25	4943	broad.mit.edu	37	X	48419138	48419138	+	Silent	SNP	G	G	A			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chrX:48419138G>A	ENST00000376771.4	+	6	2183	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.G360G	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	614					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TTGGCCGGGGGAACCCATTCA	0.602																																							uc004dka.1		NA																	0				ovary(1)	1						c.(1840-1842)GGG>GGA		TBC1 domain family, member 25							67.0	55.0	59.0					X																	48419138		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48419138G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1842G>A	X.37:g.48419138G>A						TBC1D25_uc011mly.1_Silent_p.G556G|TBC1D25_uc004dkb.1_Silent_p.G360G|TBC1D25_uc011mlz.1_Silent_p.G360G|TBC1D25_uc011mma.1_Silent_p.G360G|TBC1D25_uc004dkc.1_Silent_p.G360G|TBC1D25_uc011mmb.1_Silent_p.G618G|TBC1D25_uc011mmc.1_Silent_p.G360G|TBC1D25_uc011mmd.1_Silent_p.G360G	p.G614G	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1953	+			614					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.1842G>A	CCDS35242.1																																																																																				0.602	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		8	111	0	0	0	0.008291	0	8	111				
PGAM4	441531	broad.mit.edu	37	X	77224607	77224607	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chrX:77224607C>G	ENST00000458128.1	-	1	528	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	177					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CGTTTCCCCTCCTTGATCTGG	0.517																																							uc004ecy.1		NA																	0					0						c.(529-531)GAG>CAG		bisphosphoglycerate mutase 4							70.0	67.0	68.0					X																	77224607		2203	4293	6496	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224607C>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.529G>C	X.37:g.77224607C>G	ENSP00000412189:p.Glu177Gln					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	p.E177Q	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			1	529	-			177					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.529G>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538795	0.27475	.	.	ENSG00000226784	ENST00000458128	T	0.80824	-1.42	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.203652	0.40469	U	0.001081	T	0.66655	0.2811	L	0.48642	1.525	0.38045	D	0.935587	B	0.06786	0.001	B	0.09377	0.004	T	0.52373	-0.8584	9	.	.	.	-16.2441	3.7966	0.08741	2.0E-4:0.5193:0.4804:1.0E-4	.	177	Q8N0Y7	PGAM4_HUMAN	Q	177	ENSP00000412189:E177Q	.	E	-	1	0	PGAM4	77111263	0.949000	0.32298	0.921000	0.36526	0.923000	0.55619	0.101000	0.15251	0.260000	0.21731	0.264000	0.19307	GAG		0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		10	87	0	0	0	0.010729	0	10	87				
MAGEA12	4111	broad.mit.edu	37	X	151899930	151899930	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chrX:151899930G>C	ENST00000357916.4	-	2	1026	c.871C>G	c.(871-873)Cta>Gta	p.L291V	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.L291V|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L291V	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATCTTTAGCAAATGGTGC	0.562																																							uc010ntp.2		NA																	0				skin(1)	1						c.(871-873)CTA>GTA		melanoma antigen family A, 12							187.0	174.0	179.0					X																	151899930		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151899930G>C		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.871C>G	X.37:g.151899930G>C	ENSP00000350592:p.Leu291Val					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.L291V	p.L291V	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	1225	-	Acute lymphoblastic leukemia(192;6.56e-05)		291			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.871C>G	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.374182	0.01214	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.01647	4.71;4.71;4.71	0.809	-1.62	0.08372	.	1.567430	0.03614	N	0.235246	T	0.01287	0.0042	N	0.12422	0.21	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48019	-0.9071	9	0.46703	T	0.11	.	.	.	.	.	291	P43365	MAGAC_HUMAN	V	291	ENSP00000350592:L291V;ENSP00000377447:L291V;ENSP00000377478:L291V	ENSP00000350592:L291V	L	-	1	2	MAGEA12	151650586	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.431000	0.06965	-1.064000	0.03172	0.181000	0.17075	CTA		0.562	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		22	313	0	0	0	0.00632	0	22	313				
EXO1	9156	broad.mit.edu	37	1	242035540	242035540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr1:242035540delG	ENST00000366548.3	+	12	2067	c.1474delG	c.(1474-1476)gaafs	p.E493fs	EXO1_ENST00000348581.5_Frame_Shift_Del_p.E493fs|EXO1_ENST00000518483.1_Frame_Shift_Del_p.E493fs	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	493					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGGAAAAATGAAGAAAGTGG	0.388								Editing and processing nucleases																															uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1474-1476)GAAfs	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							115.0	117.0	116.0					1																	242035540		2203	4300	6503	SO:0001589	frameshift_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035540delG	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1474delG	1.37:g.242035540delG	ENSP00000355506:p.Glu493fs					EXO1_uc001hzi.2_Frame_Shift_Del_p.E492fs|EXO1_uc001hzj.2_Frame_Shift_Del_p.E492fs|EXO1_uc009xgq.2_Frame_Shift_Del_p.E491fs	p.E492fs	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	2014	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	492					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Frame_Shift_Del	DEL	ENST00000366548.3	37	c.1474delG	CCDS1620.1																																																																																				0.388	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		44	182	NA	NA	NA	NA	NA	44	182	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55513411	55513411	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr16:55513411delG	ENST00000219070.4	+	1	529	c.20delG	c.(19-21)cggfs	p.R7fs	MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	7					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTAATGGCCCGGGGCGCGCTC	0.751																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(19-21)CGGfs		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						5.0	7.0	6.0					16																	55513411		2088	4108	6196	SO:0001589	frameshift_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55513411delG		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.20delG	16.37:g.55513411delG	ENSP00000219070:p.Arg7fs					MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	p.R7fs	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	1	331	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	7					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Frame_Shift_Del	DEL	ENST00000219070.4	37	c.20delG	CCDS10752.1																																																																																				0.751	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45801106	45801106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-7499-01A-11D-2184-08	TCGA-73-7499-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d27ab8c-983c-42e2-a958-7d1c2e1565e5	590a8323-5e25-40df-a126-aea41cdd600e	g.chr19:45801106delC	ENST00000262891.4	+	15	2102	c.1771delC	c.(1771-1773)cccfs	p.P592fs	MARK4_ENST00000300843.4_Frame_Shift_Del_p.P592fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	592					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAGAATGGGCCCCCTGCCTC	0.711																																							uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(1771-1773)CCCfs		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							3.0	3.0	3.0					19																	45801106		1857	3632	5489	SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45801106delC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1771delC	19.37:g.45801106delC	ENSP00000262891:p.Pro592fs					MARK4_uc002pba.1_Frame_Shift_Del_p.P591fs	p.P591fs			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	15	1776	+		all_neural(266;0.224)|Ovarian(192;0.231)	591					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Del	DEL	ENST00000262891.4	37	c.1771delC	CCDS56097.1																																																																																				0.711	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
